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Emery and Rimoin's Essential Medical Genetics - 1st Edition - ISBN: 9780124072404, 9780124169821

Emery and Rimoin's Essential Medical Genetics

1st Edition

Editors: David Rimoin Reed Pyeritz Bruce Korf
Hardcover ISBN: 9780124072404
eBook ISBN: 9780124169821
Imprint: Academic Press
Published Date: 23rd April 2013
Page Count: 646
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For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference.

Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease.

This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on

Key Features

  • Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics
  • Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing
  • Enhanced with full text online access, high quality illustrations, and online-only references at


Intended for direct purchase by medical genetics practitioners and researchers in related areas.

Table of Contents



Personal Memories of David Rimoin

Basic Principles

Chapter 1. History of Medical Genetics

1.1 A Timeline for Medical Genetics (PSH)

Further Reading

Chapter 2. Medicine in a Genetic Context

Further Reading

Chapter 3. Nature and Frequency of Genetic Disease

3.1 Chromosomal Disorders

3.2 Single-Gene Disorders

3.3 Multifactorial Disorders

3.4 Somatic Cell Genetic Disorders


Chapter 4. Genomics and Proteomics

Chapter 5. Genome and Gene Structure

Chapter 6. Epigenetics

Further Reading

Chapter 7. Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences

Chapter 8. Genes in Families

8.1 Introduction

8.2 Autosomal Dominant Inheritance

8.3 Autosomal Recessive Inheritance

8.4 Sex-Linked Inheritance

8.5 X-Linked Recessive Inheritance

8.6 X-Linked Dominant Inheritance

8.7 Y-Linked (Holandric) Inheritance

Chapter 9. Analysis of Genetic Linkage

Further Reading

Chapter 10. Chromosomal Basis of Inheritance

Chapter 11. Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging

Chapter 12. Multifactorial Inheritance and Complex Diseases


Chapter 13. Population Genetics

Further Reading

Chapter 14. Pathogenetics of Disease

14.1 Introduction

14.2 Pathogenetics of Mendelian Disorders

14.3 Pathogenetics of Common Disorders

14.4 Conclusions

Further reading

Chapter 15. Human Developmental Genetics

15.1 Timing of Normal Human Development

15.2 The Concept of Developmental Fields and Field Defects

15.3 A Limited Repertoire of Developmental Genes and Pathways

15.4 Regulation of Gene Expression in Development

15.5 Organogenesis

15.6 Conclusion

General References

Chapter 16. Twins and Twinning


Chapter 17. The Molecular Biology of Cancer

Chapter 18. The Biological Basis of Aging: Implications for Medical Genetics

18.1 What is Aging?

18.2 Why Do We Age?

18.3 How Do We Age?

18.4 Progeroid Syndromes of Humans

18.5 Human Allelic Variants Homologous to Pro-longevity Genes in Model Organisms

Further Reading

Chapter 19. Pharmacogenetics and Pharmacogenomics

Further Reading

General Principles

Chapter 20. Genetic Evaluation for Common Diseases of Adulthood


Chapter 21. Genetic Counseling and Clinical Risk Assessment


Further Reading

Chapter 22. Cytogenetic Analysis

Chapter 23. Diagnostic Molecular Genetics

Further Reading

Chapter 24. Heterozygote Testing and Carrier Screening

Further Reading

Helpful Websites

Chapter 25. Prenatal Screening for Neural Tube Defects and Aneuploidy

25.1 Screening for and Diagnosis of Neural Tube Defects

25.2 Prenatal Screening for Aneuploidy

25.3 Maternal Serum Screening

25.4 Ultrasound Screening for Aneuploidy

Further Reading

Chapter 26. Techniques for Prenatal Diagnosis

26.1 Introduction

26.2 Amniocentesis

26.3 Chorionic Villus Sampling

26.4 Fetal Blood Sampling

26.5 Fetal Tissue Sampling

26.6 Summary

Further Reading

Chapter 27. Neonatal Screening

Chapter 28. Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease

Chapter 29. Gene Therapy: From Theoretical Potential to Clinical Implementation

Chapter 30. Ethical and Social Issues in Clinical Genetics

30.1 Goals and Outcomes of Genetic Services

30.2 Diagnostic Genetic Tests

30.3 Predictive Genetic Tests

30.4 Population Screening

30.5 Newborn Screening

30.6 Antenatal Screening

30.7 Free Fetal DNA and NonInvasive Prenatal Diagnosis

30.8 Genomic Carrier Screening for Carriers of Autosomal Recessive Disorders

30.9 Cross-Cultural Genetic Counseling

30.10 Labeling and Naming of Syndromes

30.11 Duty to Recontact

30.12 Genomic Screening for Common Complex Diseases

30.13 Research

Further Reading

Chapter 31. Legal Issues in Genetic Medicine

Further Reading

Applications to Clinical Problems

Chapter 32. Genetics of Female Infertility in Humans

32.1 Hypogonadotropic Hypogonadism

32.2 Hypergonadotropic Hypogonadism

32.3 Eugonadal Causes of Infertility

32.4 Conclusion

Further Reading

Chapter 33. Genetics of Male Infertility

33.1 Chromosome Anomalies

33.2 Gene Defects Involved in Endocrine Forms of Infertility

33.3 Monogenic Defects in Post-Testicular and Primary Testicular Forms of Male Infertility

33.4 Syndromic Monogenic Defects

33.5 Conclusion

Further Reading

Chapter 34. Fetal Loss

Further Reading

Chapter 35. A Clinical Approach to the Dysmorphic Child

Further Reading

Chapter 36. Clinical Teratology

Further Reading

Chapter 37. Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism

Further Reading

Chapter 38. Abnormal Body Size and Proportion

Summary References

Chapter 39. Susceptibility and Response to Infection

Further Reading

Chapter 40. Transplantation Genetics


Chapter 41. The Genetics of Disorders Affecting the Premature Newborn

41.1 Respiratory Distress Syndrome

41.2 Bronchopulmonary Dysplasia

41.3 Patent Ductus Arteriosus

41.4 Intraventricular Hemorrhage

41.5 Retinopathy of Prematurity

41.6 Necrotizing Enterocolitis


Chapter 42. Disorders of DNA Repair and Metabolism

42.1 Disorders of Nucleotide Excision Repair: Xeroderma Pigmentosum and Cockayne Syndrome

42.2 Disorders of Base Excision Repair: MUTYH and Colon Cancer Risk

42.3 Disorders of Mismatch Repair: Lynch Syndrome or Hereditary Non-polyposis Colon Cancer and Mismatch Repair Deficiency Syndrome (Autosomal Recessive Turcot Syndrome)

42.4 Disorders Associated with Double Strand Break Recognition and Repair: Ataxia Telangiectasia and Related Conditions

42.5 Crosslink Repair and Homologous Recombination Defects: Breast–Ovarian Cancer and Fanconi Anemia

42.6 Disorders Associated with RecQ Helicase Deficiency: Bloom, Werner and Rothmund–Thomson Syndromes


Applications to Specific Disorders

Chromosomal Disorders

Chapter 43. Autosomal Trisomies

Chapter 44. Sex Chromosome Abnormalities


Further Reading

Chapter 45. Deletions and Other Structural Abnormalities of the Autosomes

Further Reading

Cardiovascular Disorders

Chapter 46. Congenital Heart Defects


Chapter 47. Inherited Cardiomyopathies

47.1 Hypertrophic Cardiomyopathy

47.2 Dilated Cardiomyopathy

47.3 Arrhythmogenic Right Ventricular Dysplasia

47.4 Ventricular Noncompaction

47.5 Conclusion


Chapter 48. Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension


Further reading

Chapter 49. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome)

49.1 Introduction

49.2 Prevalence

49.3 Phenotype and Natural History

49.4 Genetics

49.5 Pathogenesis

49.6 Diagnosis

49.7 Management

49.8 Gastrointestinal

49.9 Anemia

49.10 Counseling

49.11 Life Expectancy


Further Reading

Chapter 50. Hereditary Disorders of the Lymphatic System and Varicose Veins

50.1 Development of the Lymphatic System

50.2 Disorders of the Lymphatic System

50.3 Mendelian Disorders Affecting Both the Lymphatic and Venous System

50.4 Varicose Veins

50.5 Genetic Counseling

Further Reading

Chapter 51. The Genetics of Cardiac Electrophysiology in Humans

51.1 Introduction

51.2 Familial Forms of Conduction Disturbance and Dysrhythmia

51.3 Personalized Management of Disorders of Cardiac Electrophysiology

51.4 Conclusions

Further Reading

Chapter 52. Genetics of Blood Pressure Regulation

52.1 Introduction

52.2 Mendelian and Other Forms of Hypertension

52.3 Mendelian and Other Forms of Hypotension

52.4 Essential Hypertension

52.5 Personalized Management of Dysregulated Blood Pressure

52.6 Conclusions

Further Reading

Chapter 53. Preeclampsia

Further Reading

Chapter 54. Common Genetic Determinants of Coagulation and Fibrinolysis

54.1 The Coagulation Cascade

54.2 Natural Anticoagulants

54.3 The Fibrinolytic Cascade

54.4 Platelet Function and Platelet Glycoprotein Receptor Variants

54.5 GWAS for Venous and Arterial Thrombosis

54.6 Conclusions

Further Reading

Chapter 55. Genetics of Atherosclerotic Cardiovascular Disease

Further Reading

Chapter 56. Disorders of the Venous System

56.1 Introduction

56.2 Glomuvenous Malformation

56.3 Inherited Venous Malformation

56.4 Sporadic Venous Malformation

56.5 Hyperkeratotic Cutaneous Capillarovenous Malformation

56.6 Other VM-Associated Syndromes

56.7 Conclusion


Further Reading

Chapter 57. Capillary Malformation/Arteriovenous Malformation

57.1 Introduction

57.2 Capillary Malformation—Arteriovenous Malformation


Further Reading

Respiratory Disorders

Chapter 58. Cystic Fibrosis

Further Reading

Chapter 59. Genetic Underpinnings of Asthma and Related Traits

Further Reading

Chapter 60. Hereditary Pulmonary Emphysema


Chapter 61. Interstitial and Restrictive Pulmonary Disorders

Further Reading

Renal Disorders

Chapter 62. Congenital Anomalies of the Kidney and Urinary Tract

62.1 Errors of Organogenesis

62.2 Error of Migration and Position

62.3 Errors Resulting in Obstruction


Chapter 63. Cystic Diseases of the Kidney

Further Reading

Chapter 64. Nephrotic Disorders

64.1 NS in Newborns and Children

64.2 NS in Adolescents and Adults

64.3 NS Diagnostics and Management

Chapter 65. Renal Tubular Disorders

65.1 Generalized Disorders of Tubular Function (Fanconi Syndrome)

65.2 Renal Tubular Acidosis

65.3 Conclusion

Further Reading

Chapter 66. Cancer of the Kidney and Urogenital Tract

66.1 Tumors of the Kidney

66.2 Tumors of the Bladder

66.3 Carcinoma of the Prostate

66.4 Testicular Neoplasms


Gastrointestinal Disorders

Chapter 67. Gastrointestinal Tract and Hepatobiliary Duct System

Further Reading

Chapter 68. Bile Pigment Metabolism and Its Disorders


Chapter 69. Cancer of the Colon and Gastrointestinal Tract

69.1 Familial Gastrointestinal Cancer Syndromes

Further Reading

Hematologic Disorders

Chapter 70. Hemoglobinopathies and Thalassemias

Further Reading

Relevant Web Pages

Chapter 71. Other Hereditary Red Blood Cell Disorders

71.1 RBC Enzyme Disorders

71.2 RBC Membrane Disorders

71.3 Congenital Bone Marrow Failure Syndromes

71.4 Megaloblastic Anemias

71.5 Dyserythropoietic Anemias

71.6 Sideroblastic Anemias


Chapter 72. Hemophilias and Other Disorders of Hemostasis

72.1 Inherited Disorders Of The Coagulation Cascade

72.2 Hemophilias

72.3 von Willebrand Disease

72.4 Other Factor Deficiencies

72.5 Defects in Other Coagulation Cascade Proteins

72.6 Platelet Disorders

72.7 Inherited Disorders Predisposing to Thrombosis

Further Reading

Chapter 73. Rhesus and Other Fetomaternal Incompatibilities

73.1 Etiology of Alloimmunization

73.2 Detection of Fetomaternal Hemorrhage

73.3 Rh Blood Group System

73.4 Molecular Basis of Rh Antigens

73.5 Prenatal Rh Genotyping

73.6 Noninvasive Prenatal Diagnosis

73.7 Alloimmune Thrombocytopenia

73.8 Management and Prevention of Alloimmunization

73.9 Treatment

Further reading

Chapter 74. Leukemias, Lymphomas, and Other Related Disorders

Further Reading

Chapter 75. Immunologic Disorders: Autoimmunity: Genetics and Immunologic Mechanisms

Chapter 76. Systemic Lupus Erythematosus

Further Reading

Chapter 77. Rheumatoid Disease and Other Inflammatory Arthropathies


Chapter 78. Amyloidosis and Other Protein Deposition Diseases

78.1 DNA Diagnosis

78.2 Treatment of Hereditary Amyloidosis


Chapter 79. Immunodeficiency Disorders


Further Reading

Chapter 80. Inherited Complement Deficiencies

80.1 Clinical Aspects of Complement Deficiencies

80.2 Genetics

80.3 Diagnosis

Further Reading

Endocrinologic Disorders

Chapter 81. Disorders of Leukocyte Function

81.1 Neutrophil Number Disorders

81.2 Leukocyte Adhesion Deficiencies

81.3 Disorders of Granulocyte Chemotaxis

81.4 Disorders of Microbicidal Activity

81.5 Monocyte/Macrophage Function Disorders


Chapter 82. Genetic Disorders of the Pituitary Gland

82.1 Introduction

82.2 Anterior Pituitary

82.3 Posterior Pituitary: Genetic Disorders Of AVP Deficiency


Chapter 83. Thyroid Disorders

83.1 Hypothalamic-Pituitary Congenital Hypothyroidism

83.2 Thyroidal Congenital Hypothyroidism

83.3 Disorders of Thyroid Hormone Transport Proteins, Membrane Transporters and Thyroid Hormone Action

83.4 Genetic Hyperthyroidism

83.5 Thyroid Disease Associated with Chromosomal Disorders and Contigous Gene Deletion Syndromes

83.6 Genetic Basis of Autoimmune Thyroid Disease

83.7 Genetic Basis Of Thyroid Carcinoma


Chapter 84. Parathyroid Disorders

Further Reading

Chapter 85. Diabetes Mellitus

85.1 Introduction

85.2 Type 1 Diabetes Mellitus

85.3 Type 2 Diabetes Mellitus


Chapter 86. Genetic Disorders of the Adrenal Gland

Further Reading

Chapter 87. Disorders of the Gonads, Genital Tract, and Genitalia

87.1 46,XX Sex Reversal (XX Males)

87.2 XY Sex Reversal (46,XY Females)

87.3 46,XY DSD (Male Psudohermaphroditism)

87.4 Ovotesticular DSD (True Hermaphroditism)

87.5 46,XX Ovarian Dysgenesis/Premature Ovarian Failure (POF)

87.6 Internal Genital Duct Anomalies (Müllerian Or Wolffian)

Further Reading

Chapter 88. Cancer of the Breast and Female Reproductive Tract

Metabolic Disorders

Chapter 89. Disorders of the Body Mass

Suggested Reading

Chapter 90. Genetic Lipodystrophies

Chapter 91. Amino Acid Metabolism

Further Reading

Chapter 92. Disorders of Carbohydrate Metabolism


Chapter 93. Congenital Disorders of Protein Glycosylation

Chapter 94. Purine and Pyrimidine Metabolism

Chapter 95. Lipoprotein and Lipid Metabolism


Chapter 96. Organic Acidemias and Disorders of Fatty Acid Oxidation


Chapter 97. Vitamin D Metabolism or Action

97.1 History

97.2 Normal Physiology of Calciferols

97.3 Transcriptional and Nongenomic Effects of 1,25(OH)2D

97.4 Hereditary Vitamin D–Dependent Rickets Types 1 and 2

97.5 Calciferol Excess State


Chapter 98. Inherited Porphyrias

Further Reading

Chapter 99. Inherited Disorders of Human Copper Metabolism

Chapter 100. Iron Metabolism and Related Disorders

100.1 Introduction

100.2 Clinical Conditions


Chapter 101. Mucopolysaccharidoses

Further Reading

Chapter 102. Oligosaccharidoses: Disorders Allied to the Oligosaccharidoses

102.1 Oligosaccharidoses

102.2 Disorders Allied to the Oligosaccharidoses

Chapter 103. Sphingolipid Disorders and the Neuronal Ceroid Lipofuscinoses or Batten Disease (Wolman Disease, Cholesterylester Storage Disease, and Cerebrotendinous Xanthomatosis)

103.1 Loss of Function Mutation of GM3-Synthase

103.2 Niemann–Pick Disease

103.3 Acid Lipase Deficiency (Wolman Disease And Cholesteryl Ester Storage Disease)

103.4 Gaucher Disease

103.5 Galactosylceramide Lipidosis, Globoid Cell Leukodystrophy, or Krabbe Disease: Introduction

103.6 Major Batten/Neuronal Ceroid Lipofuscinosis Syndromes

Chapter 104. Peroxisomal Disorders

Mental and Behavioral Disorders

Chapter 105. The Genetics of Personality

Chapter 106. Fragile X Syndrome and X-Linked Intellectual Disability

106.1 Fragile X Syndrome

106.2 Other Forms of XLID

Further Reading

Chapter 107. Dyslexia and Related Communication Disorders


Chapter 108. Attention-Deficit/Hyperactivity Disorder

108.1 Behavioral Genetics

108.2 Molecular Genetics

108.3 Conclusions


Chapter 109. Autism Spectrum Disorders


Chapter 110. Genetics of Alzheimer Disease

Further Reading

Chapter 111. Schizophrenia and Affective Disorders


Chapter 112. Addictive Disorders

Further Reading

Neurologic Disorders

Chapter 113. Neural Tube Defects

113.1 Embryology

113.2 Definition

113.3 Risk Factors

113.4 Diagnosis, Treatment, and Outcome


Chapter 114. Genetic Disorders of Cerebral Cortical Development


Chapter 115. Genetic Aspects of Human Epilepsy


Chapter 116. Basal Ganglia Disorders

Further Reading

Chapter 117. The Hereditary Ataxias


Chapter 118. Hereditary Spastic Paraplegia

118.1 Clinical Overview

118.2 Genetic Heterogeneity

118.3 Neuropathology

118.4 Molecular Basis

118.5 Treatment


Chapter 119. Autonomic and Sensory Disorders

119.1 Familial Dysautonomia (Riley–Day Syndrome or HSAN Type III)

119.2 Congenital Sensory Neuropathy with Anhidrosis (HSAN Type IV)


Chapter 120. The Phakomatoses

Further Reading

Chapter 121. Multiple Sclerosis and Other Demyelinating Disorders

121.1 Practical Applications of Genetic Studies


Chapter 122. Genetics of Stroke

122.1 Introduction

122.2 Genetics and Stroke Risk

122.3 Monogenic Disorders Causing Stroke

122.4 Genome-Wide Association Studies and Genomics

122.5 Summary


Chapter 123. Primary Tumors of the Nervous System

Neuromuscular Disorders

Chapter 124. Muscular Dystrophies


Chapter 125. Hereditary Motor and Sensory Neuropathies

Chapter 126. Congenital (Structural) Myopathies

Further Reading

Chapter 127. Spinal Muscular Atrophies

127.1 Diagnosis

127.2 Proximal SMA and Variants

127.3 Distal SMA

127.4 Therapy and Future Prospects


Chapter 128. Hereditary Muscle Channelopathies

Further Reading

Chapter 129. The Myotonic Dystrophies


Chapter 130. Hereditary and Autoimmune Myasthenias

130.1 Congenital Myasthenic Syndromes

130.2 Acquired Myasthenias


Chapter 131. Motor Neuron Disease

Ophthalmologic Disorders

Chapter 132. Genetics of Color Vision Defects

132.1 Introduction

132.2 Red–Green Color Vision Defects

Further Reading

Internet Review



Chapter 133. Optic Atrophy


Chapter 134. Glaucoma

134.1 Clinical Features of Heritable Forms of Glaucoma

134.2 Identification of Glaucoma Genes Using Linkage Analysis

134.3 Genes Causing Glaucoma in Animal Models

134.4 Identification of Glaucoma Genes Using Genomic Approaches

Further Reading

Chapter 135. Defects of the Cornea


Chapter 136. Congenital Cataracts and Genetic Anomalies of the Lens

Further Reading

Chapter 137. Hereditary Retinal and Choroidal Dystrophies

Chapter 138. Strabismus

Chapter 139. Retinoblastoma and the RB1 Cancer Syndrome

139.1 Two Hit Hypothesis

139.2 The RB1 Cancer Syndrome

139.3 Clinical Features

139.4 Classification of Retinoblastoma

139.5 Treatment Of Intraocular Retinoblastoma

139.6 Testing Issues


Chapter 140. Anophthalmia, Microphthalmia, and Uveal Coloboma



Chapter 141. Hereditary Hearing Impairment

Further Reading

Useful Websites

Craniofacial Disorders

Chapter 142. Clefting, Dental, and Craniofacial Syndromes

Further Reading

Chapter 143. Craniosynostosis

Further Reading

Dermatologic Disorders

Chapter 144. Abnormalities of Pigmentation

144.1 Disorders of Melanocyte Development, Differentiation, and/or Migration

144.2 Disorders of Melanocyte Function

144.3 Disorders of Melanocyte Survival


Chapter 145. Ichthyosiform Dermatoses

Further Reading

Chapter 146. Epidermolysis Bullosa


Chapter 147. Ectodermal Dysplasias


Chapter 148. Skin Cancer


Chapter 149. Psoriasis

Chapter 150. Cutaneous Hamartoneoplastic Disorders

150.1 Hereditary Leiomyomatosis and Renal Cancer

150.2 Birt Hogg Dubé Syndrome

Chapter 151. Inherited Disorders of the Hair

Connective Tissue Disorders

Chapter 152. Marfan Syndrome and Related Disorders

152.1 Marfan syndrome (omim 154 700)


Further Reading

Chapter 153. Ehlers–Danlos Syndrome

153.1 Types of EDS

153.2 Concluding Remarks


Further Reading

Chapter 154. Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders

Further Reading

Skeletal Disorders

Chapter 155. Osteogenesis Imperfecta (and Other Disorders of Bone Matrix)

Further Reading

Chapter 156. Disorders of Bone Density, Volume, and Mineralization

Further Reading

Chapter 157. Chondrodysplasias

Further Reading

Chapter 158. Abnormalities of Bone Structure

Chapter 159. Arthrogryposes (Multiple Congenital Contractures)

Relevant Websites

Chapter 160. Common Skeletal Deformities

Further Reading

Chapter 161. Hereditary Noninflammatory Arthropathies

161.1 Introduction

161.2 Spondyloepiphyseal Dysplasias

161.3 Familial Osteoarthropathy

161.4 Primary Osteoarthropathy of the Hip

161.5 Mseleni Joint Disease



Chapter 162. Pathways—Cohesinopathies

162.1 Cornelia de Lange Syndrome

162.2 Cohesin Biology

162.3 Other Disorders of Cohesin and Sister Chromatid Cohesion

Further Reading

Chapter 163. Genes and Mechanisms in Human Ciliopathies



No. of pages:
© Academic Press 2013
23rd April 2013
Academic Press
Hardcover ISBN:
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About the Editors

David Rimoin

Affiliations and Expertise

Medical Genetics Institute, Los Angeles, CA, USA

Reed Pyeritz

Dr. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian. Dr. Pyeritz focuses his research in two areas – Mendelian disorders of the cardiovascular system (especially those involving defects of connective tissue) and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions – diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz directs Penn CIGHT (Center for the Integration of Genetic Healthcare Technologies). Supported by the ELSI Branch of the National Human Genome Research Institute, Penn CIGHT conducts research in the broad area of ‘uncertainty’ as related to the introduction of evolving approaches to assaying a patient’s genotype.

Affiliations and Expertise

William Smilow Professor of Medicine and Professor of Genetics, Senior Fellow, Leonard Davis Institute of Health Economics, Perelman School of Medicine, University of Pennsylvania, Smilow Center for Translational Research, Philadelphia, PA, USA

Bruce Korf

Affiliations and Expertise

University of Alabama at Birmingham, Birmingham, AL


"…this is a masterful summary of essential information for the practice of clinical genetics...From nurse practitioners to supervising physicians, from early trainees to senior fellows, this is a must-have tool…Sadly, David Rimoin died after a brief illness after finalizing this amazing book. The medical genetics community will miss him greatly. There are no books that match the quality of this one."Rating: 5, March 7, 2014
"The late Rimoin, Pyeritz, and Korf present 163 brief chapters that summarize chapters from Emery and Rimoin's Principles and Practice of Medical Genetics, for students, researchers, and practitioners…This edition has new chapters and includes common disorders not traditionally viewed as genetic."--Reference and Research Book News, August 2013

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