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Epstein's Inborn Errors of Development : The Molecular Basis of Clinical Disorders of Morphogenesis.

By: Contributor(s): Material type: TextTextSeries: Oxford Monographs on Medical Genetics SeriesPublisher: Oxford : Oxford University Press, Incorporated, 2016Copyright date: ©2016Edition: 3rd edDescription: 1 online resource (1553 pages)Content type:
  • text
Media type:
  • computer
Carrier type:
  • online resource
ISBN:
  • 9780190275426
Subject(s): Genre/Form: Additional physical formats: Print version:: Epstein's Inborn Errors of DevelopmentDDC classification:
  • 616/.042
LOC classification:
  • RB155.5.E678 2016
Online resources:
Contents:
Intro -- Series -- Untitled -- Epstein's Inborn Errors of Development -- Copyright -- Contents -- Contributors -- I. GENERAL CONCEPTS -- 1. Human Malformations and Their Genetic Basis -- 2. Principles of Differentiation and Morphogenesis -- 3. Model Organisms in the Study of Development and Disease -- 4. Human Genomics and Human Development -- II. Patterns of Development -- 5. Development of Left-.Right Asymmetry -- 6. Neural Crest Formation and Craniofacial Development -- 7. Development of the Nervous System -- 8. Development of the Eye -- 9. Development of the Ear -- 10. Molecular Regulation of Cardiogenesis -- 11. Update on the Development of the Vascular System and Its Sporadic Disorders -- 12. Muscle and Somite Development -- 13. The Development of Bone and Cartilage -- 14. Limb Development -- 15. The Sex-.Determination Pathway -- 16. Development of the Kidney -- 17. Development of the Endodermal Derivatives in Lung, Liver, Pancreas, and Gut -- 18. Development of Epidermal Appendages: Teeth and Hair -- III. Defined Core Developmental Pathways Linked to Cilia -- A: Ciliary Functions: Genesis, Transport, and Reabsorbtion -- 19. Primary Ciliary Dyskinesia (Kartagener Syndrome) -- 20. The Molecular Basis of Joubert Syndrome and Related Disorders -- 21. The Bardet-.Biedl Syndrome -- 22. The Molecular Basis of Oral-.Facial-.Digital Type I Syndrome -- 23. Meckel Syndrome -- 24. From Hydrolethalus to Acrocallosal Syndromes: A Spectrum of Disorders Linked to the KIF7 Gene -- 25. Sensenbrenner Syndrome (Cranioectodermal Dysplasia, CED): A Genetically Heterogeneous Ciliopathy -- 26. MKKS and the McKusick-.Kaufman and Bardet-.Biedl Syndromes -- B: The Sonic Hedgehog Signaling Pathway -- 27. The Hedgehog Signaling Network -- 28. Smith-.Lemli-.Opitz Syndrome -- 29. SHH and Holoprosencephaly -- 30. IHH, Acrocapitofemoral Dysplasia, and Brachydactyly A1.
31. PTCH and the Basal Cell Nevus (Gorlin) Syndrome -- 32. GLI3 and the Pallister-.Hall and Greig Cephalopolysyndactyly Syndromes -- 33. SALL1 and the Townes-.Brocks Syndrome -- 34. MYCN and Feingold Syndrome -- 35. Preaxial Polydactyly Type 2 and Associated Limb Defects -- C: The Wnt Signaling Pathway -- 36. The Wnt Signaling Pathway -- 37. AXIN2, Tooth Agenesis, and Colorectal Cancer -- 38. WNT3 and Tetra-.Amelia -- 39. ROR2, Brachydactyly Type B, and Recessive Robinow Syndrome -- 40. Cenani-.Lenz Syndrome -- 41. Goltz Syndrome (Focal Dermal Hypoplasia) -- 42. WNT10A and Odonto-.Onycho-.Dermal Dysplasia -- 43. Al-.Awadi-.Raas-.Rothschild Syndrome/.Fuhrmann Syndrome -- 44. AXIN1 and Caudal Duplication Anomaly -- D: The Planar Cell Polarity (PCP) Pathway -- 45. Role of Planar Cell Polarity Genes VANGL1 and VANGL2 in Neural Tube Formation and Neural Tube Defects -- IV. Other Defined Core Developmental Pathways -- A: The TGF-.ß Signaling Pathway -- 46. An Introduction to TGF-.ß Family Signaling -- 47. NOG and Proximal Symphalangism (SYM1), Multiple Synostosis (SYN1), Tarsal-.Carpal Coalition, and Isolated Stapes Ankylosis -- 48. Nodal Signaling and Heterotaxy -- 49. ENG, ACVRL1, SMAD4, and Hereditary Hemorrhagic Telangiectasia (Osler-.Weber-.Rendu Syndrome) -- 50. RUNX2 and Cleidocranial Dysplasia -- 51. AMH/.MIS and Its Receptors: The Persistent Müllerian Duct Syndrome -- 52. LEMD3 and Osteopoikilosis, the Buschke-.Ollendorff Syndrome and Melorheostosis -- 53. TGFBR 1/.2 and Loeys-.Dietz Syndrome -- 54. ZEB2 and Mowat-.Wilson Syndrome -- 55. LTBP4 and Autosomal Recessive Cutis Laxa Type IC -- 56. ACVR1 and Fibrodysplasia Ossificans Progressiva -- 57. The Role of the Latent TGF- ß Binding Protein 3, LTBP3, in Tooth, Spine, and Bone Density Abnormalities -- B: The TNF Signaling Pathway -- 58. Signaling by TNF and Related Ligands.
59. The Ectodysplasin Signaling Pathway in Hypohidrotic Ectodermal Dysplasias -- C: The FGF Signaling Pathway -- 60. Molecular and Cellular Biology of FGF Signaling -- 61. FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndromes -- 62. FGF10, FGFR2, and FGFR3 and the Lacrimo-.Auriculo-.Dental-.Digital (LADD) Syndrome -- 63. TWIST1 and the Saethre-.Chotzen Syndrome -- 64. FGFR1, FGF8, PROKR2, PROK2, ANOS1, and the Olfactogenital (Kallmann) Syndrome -- 65. TIE2 (TEK) and Venous Malformation -- 66. FLT4 (VEGFR3) and Milroy Disease -- 67. Focal Facial Dermal Dysplasias -- D: Glia Cell-.Derived Neurotrophic Factor Signaling -- 68. Signaling Pathways of Glial Cell-.Derived Neurotrophic Factor -- 69. RET Mutation and Function in HSCR, MEN2, and Other Cancers -- E: Introduction to Endothelin-.B Receptor and SOX10 Pathways -- 70. Introduction to Endothelin-.B Receptor and SOX10 Pathways -- 71. EDNRB, EDN3, SOX10, and the Shah-.Waardenburg Syndrome (WS4) -- F: The Notch Signaling Pathway -- 72. Introduction to Notch Signaling -- 73. JAG1 and NOTCH2 and the Alagille Syndrome -- 74. DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2 and Spondylocostal Dysostosis -- G: The PI3K-.LKB1 Pathway -- 75. The PI3K-.LKB1 Pathway -- 76. PTEN and Cowden and Bannayan-.Riley-.Ruvalcaba Syndromes -- 77. STK11 (LKB1) and Peutz-.Jeghers Syndrome -- 78. TSC1, TSC2, and Tuberous Sclerosis -- H: The RAS/.ERK/.MAPK Pathway -- 79. The RAS Pathway -- 80. Neurofibromatosis Type 1 -- 81. Noonan Syndrome and RAS Signaling Defects -- 82. HRAS and Costello Syndrome -- 83. The Ras/.MAPK Pathway and the Cardio-.Facio-.Cutaneous Syndrome -- 84. RASA1 and Capillary Malformation-.Arteriovenous Malformation -- 85. SPRED1 and Legius Syndrome -- I: Eph/.Ephrin Signaling -- 86. Introduction to Eph/.Ephrin Signaling in Vertebrate Development.
87. Craniofrontonasal Syndrome and EFNB1 Mutations -- V. Transcription Factors and Chromatin Regulators -- A: The Homeobox Gene Family -- 88. The Role of Hox and Dlx Gene Clusters in Evolution and Development -- 89. HOXA1 Deficiency Syndrome -- 90. HOXA11 and Amegakaryocytic Thrombocytopenia With Radioulnar Synostosis -- 91. HOXA13 Hand-.Foot-.Genital Syndrome and Guttmacher Syndrome -- 92. HOXD10 Mutations Associated With Congenital Vertical Talus and Pes Cavus Claw-Toe Limb Abnormalities -- 93. HOXD13 and Synpolydactyly -- 94. EMX2, HESX1, Type I Schizencephaly, and Septo-.Optic Dysplasia -- 95. PDX1, Pancreatic Agenesis, and Type 2 Diabetes -- 96. MSX1, Hypodontia, Orofacial Clefting, and the Witkop Syndrome -- 97. MSX2 in Craniosynostosis and Defects of Skull Ossification -- 98. SHOX, Dyschondrosteosis, and Turner Syndrome -- 99. HLXB9 (MNX1), Sacral Agenesis, and the Currarino Syndrome -- 100. Branchio-.Oto-.Renal (BOR) Syndrome -- 101. PITX2 and PITX3: Axenfeld-.Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurological Impairment -- 102. and Congenital Heart Disease -- 103. LMX1B and the Nail-.Patella Syndrome -- 104. The ALX Homeobox Gene Family and Frontonasal Dysplasias -- 105. Simplex and Complex Microphthalmia Genes-.OTX2, RAX, VSX2, VAX1, SIX6, and HMX1 -- 106. PRRX1 -- 107. Developmental Abnormalities Due to Mutations in the Aristaless-.Related Homeobox Gene -- 108. PITX1-.Associated Congenital Lower Limb Malformations -- B: The Paired Box (PAX) Gene Family -- 109. The Paired Box (PAX) Gene Family: Introduction to Paired. Box Genes -- 110. PAX2 and the Renal-.Coloboma Syndrome -- 111. PAX3 and Waardenburg Syndrome Type 1 -- 112. PAX6, Aniridia, and Related Phenotypes -- 113. PAX9 and Hypodontia -- C: The Forkhead Gene Family -- 114. Introduction to Forkhead Genes.
115. FOXC1, FOXL2, the Axenfeld-.Rieger Syndrome, and the Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome -- 116. FOXC2, FOXF1, and the 16q24.1-.Region Microdeletions: Lymphatic, Vascular, Cardiac, and Other Phenotypes -- 117. FOXE1: Bamforth-.Lazarus Syndrome, Thyroid Dysgenesis, and Thyroid Cancer Predisposition -- 118. AGGF1 and Vascular Disease: Klippel-.Trenaunay Syndrome -- D: The T-.Box Gene Family -- 119. Introduction to the T-.Box Genes: Their Evolution and Roles in Development -- 120. The 22q11.2 Deletion Syndrome and TBX1 -- 121. TBX3, TBX5, and the Ulnar-.Mammary and Holt-.Oram Syndromes -- 122. TBX22, X-.linked Cleft Palate, and Ankyloglossia -- E: The SOX Gene Family -- 123. Sox Genes in Development and Disease -- 124. SOX2 and Malformations of the Eye, Brain, Foregut, and Male Genital Tract -- 125. SOX3 and Infundibular Hypoplasia -- 126. SOX9, Campomelic Dysplasia, and Sex Reversal -- 127. SOX18 and the Hypotrichosis-.Lymphedema-.Telangiectasia Syndrome -- F: Transcription Factors -- 128. MITF and the Waardenburg Type II and Albinism-.Deafness (Tietz) Syndromes -- 129. POU3F4 and Mixed Deafness With Temporal Bone Defect (DFNX2) -- 130. Char and Branchio-.Oculo-.Facial Syndromes: The AP-.2 Transcription Factor Defects -- 131. GATA3, Hypoparathryoidism, Deafness, and Renal Disease -- 132. FOG-.2 (now ZFPM2), GATA-.4, Congenital Heart Disease, and Diaphragmatic Hernia -- 133. PTF1A: Pancreatic and Cerebellar Agenesis -- 134. RAI1, Smith-.Magenis Syndrome, and Potocki-.Lupski Syndrome -- 135. SALL4 and the Duane Radial-.Ray/.Okihiro and Acro-.Renal-.Ocular Syndromes -- 136. HNF1B-.MODY: A Disorder of Development With Diabetes and Congenital Malformations in the Pancreas and Urogenital Tract Due to Mutations in HNF1B -- 137. ZIC1, ZIC4, and FOXC1 in Dandy-.Walker Malformation -- 138. MED12 and Opitz-.Kaveggia Syndrome.
139. Börjeson-.Forssman-.Lehmann Syndrome and PHF6.
Summary: Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. It is a top-to-bottom revision of the landmark text that both revolutionized and accelerated the field of human genetics.
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Intro -- Series -- Untitled -- Epstein's Inborn Errors of Development -- Copyright -- Contents -- Contributors -- I. GENERAL CONCEPTS -- 1. Human Malformations and Their Genetic Basis -- 2. Principles of Differentiation and Morphogenesis -- 3. Model Organisms in the Study of Development and Disease -- 4. Human Genomics and Human Development -- II. Patterns of Development -- 5. Development of Left-.Right Asymmetry -- 6. Neural Crest Formation and Craniofacial Development -- 7. Development of the Nervous System -- 8. Development of the Eye -- 9. Development of the Ear -- 10. Molecular Regulation of Cardiogenesis -- 11. Update on the Development of the Vascular System and Its Sporadic Disorders -- 12. Muscle and Somite Development -- 13. The Development of Bone and Cartilage -- 14. Limb Development -- 15. The Sex-.Determination Pathway -- 16. Development of the Kidney -- 17. Development of the Endodermal Derivatives in Lung, Liver, Pancreas, and Gut -- 18. Development of Epidermal Appendages: Teeth and Hair -- III. Defined Core Developmental Pathways Linked to Cilia -- A: Ciliary Functions: Genesis, Transport, and Reabsorbtion -- 19. Primary Ciliary Dyskinesia (Kartagener Syndrome) -- 20. The Molecular Basis of Joubert Syndrome and Related Disorders -- 21. The Bardet-.Biedl Syndrome -- 22. The Molecular Basis of Oral-.Facial-.Digital Type I Syndrome -- 23. Meckel Syndrome -- 24. From Hydrolethalus to Acrocallosal Syndromes: A Spectrum of Disorders Linked to the KIF7 Gene -- 25. Sensenbrenner Syndrome (Cranioectodermal Dysplasia, CED): A Genetically Heterogeneous Ciliopathy -- 26. MKKS and the McKusick-.Kaufman and Bardet-.Biedl Syndromes -- B: The Sonic Hedgehog Signaling Pathway -- 27. The Hedgehog Signaling Network -- 28. Smith-.Lemli-.Opitz Syndrome -- 29. SHH and Holoprosencephaly -- 30. IHH, Acrocapitofemoral Dysplasia, and Brachydactyly A1.

31. PTCH and the Basal Cell Nevus (Gorlin) Syndrome -- 32. GLI3 and the Pallister-.Hall and Greig Cephalopolysyndactyly Syndromes -- 33. SALL1 and the Townes-.Brocks Syndrome -- 34. MYCN and Feingold Syndrome -- 35. Preaxial Polydactyly Type 2 and Associated Limb Defects -- C: The Wnt Signaling Pathway -- 36. The Wnt Signaling Pathway -- 37. AXIN2, Tooth Agenesis, and Colorectal Cancer -- 38. WNT3 and Tetra-.Amelia -- 39. ROR2, Brachydactyly Type B, and Recessive Robinow Syndrome -- 40. Cenani-.Lenz Syndrome -- 41. Goltz Syndrome (Focal Dermal Hypoplasia) -- 42. WNT10A and Odonto-.Onycho-.Dermal Dysplasia -- 43. Al-.Awadi-.Raas-.Rothschild Syndrome/.Fuhrmann Syndrome -- 44. AXIN1 and Caudal Duplication Anomaly -- D: The Planar Cell Polarity (PCP) Pathway -- 45. Role of Planar Cell Polarity Genes VANGL1 and VANGL2 in Neural Tube Formation and Neural Tube Defects -- IV. Other Defined Core Developmental Pathways -- A: The TGF-.ß Signaling Pathway -- 46. An Introduction to TGF-.ß Family Signaling -- 47. NOG and Proximal Symphalangism (SYM1), Multiple Synostosis (SYN1), Tarsal-.Carpal Coalition, and Isolated Stapes Ankylosis -- 48. Nodal Signaling and Heterotaxy -- 49. ENG, ACVRL1, SMAD4, and Hereditary Hemorrhagic Telangiectasia (Osler-.Weber-.Rendu Syndrome) -- 50. RUNX2 and Cleidocranial Dysplasia -- 51. AMH/.MIS and Its Receptors: The Persistent Müllerian Duct Syndrome -- 52. LEMD3 and Osteopoikilosis, the Buschke-.Ollendorff Syndrome and Melorheostosis -- 53. TGFBR 1/.2 and Loeys-.Dietz Syndrome -- 54. ZEB2 and Mowat-.Wilson Syndrome -- 55. LTBP4 and Autosomal Recessive Cutis Laxa Type IC -- 56. ACVR1 and Fibrodysplasia Ossificans Progressiva -- 57. The Role of the Latent TGF- ß Binding Protein 3, LTBP3, in Tooth, Spine, and Bone Density Abnormalities -- B: The TNF Signaling Pathway -- 58. Signaling by TNF and Related Ligands.

59. The Ectodysplasin Signaling Pathway in Hypohidrotic Ectodermal Dysplasias -- C: The FGF Signaling Pathway -- 60. Molecular and Cellular Biology of FGF Signaling -- 61. FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndromes -- 62. FGF10, FGFR2, and FGFR3 and the Lacrimo-.Auriculo-.Dental-.Digital (LADD) Syndrome -- 63. TWIST1 and the Saethre-.Chotzen Syndrome -- 64. FGFR1, FGF8, PROKR2, PROK2, ANOS1, and the Olfactogenital (Kallmann) Syndrome -- 65. TIE2 (TEK) and Venous Malformation -- 66. FLT4 (VEGFR3) and Milroy Disease -- 67. Focal Facial Dermal Dysplasias -- D: Glia Cell-.Derived Neurotrophic Factor Signaling -- 68. Signaling Pathways of Glial Cell-.Derived Neurotrophic Factor -- 69. RET Mutation and Function in HSCR, MEN2, and Other Cancers -- E: Introduction to Endothelin-.B Receptor and SOX10 Pathways -- 70. Introduction to Endothelin-.B Receptor and SOX10 Pathways -- 71. EDNRB, EDN3, SOX10, and the Shah-.Waardenburg Syndrome (WS4) -- F: The Notch Signaling Pathway -- 72. Introduction to Notch Signaling -- 73. JAG1 and NOTCH2 and the Alagille Syndrome -- 74. DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2 and Spondylocostal Dysostosis -- G: The PI3K-.LKB1 Pathway -- 75. The PI3K-.LKB1 Pathway -- 76. PTEN and Cowden and Bannayan-.Riley-.Ruvalcaba Syndromes -- 77. STK11 (LKB1) and Peutz-.Jeghers Syndrome -- 78. TSC1, TSC2, and Tuberous Sclerosis -- H: The RAS/.ERK/.MAPK Pathway -- 79. The RAS Pathway -- 80. Neurofibromatosis Type 1 -- 81. Noonan Syndrome and RAS Signaling Defects -- 82. HRAS and Costello Syndrome -- 83. The Ras/.MAPK Pathway and the Cardio-.Facio-.Cutaneous Syndrome -- 84. RASA1 and Capillary Malformation-.Arteriovenous Malformation -- 85. SPRED1 and Legius Syndrome -- I: Eph/.Ephrin Signaling -- 86. Introduction to Eph/.Ephrin Signaling in Vertebrate Development.

87. Craniofrontonasal Syndrome and EFNB1 Mutations -- V. Transcription Factors and Chromatin Regulators -- A: The Homeobox Gene Family -- 88. The Role of Hox and Dlx Gene Clusters in Evolution and Development -- 89. HOXA1 Deficiency Syndrome -- 90. HOXA11 and Amegakaryocytic Thrombocytopenia With Radioulnar Synostosis -- 91. HOXA13 Hand-.Foot-.Genital Syndrome and Guttmacher Syndrome -- 92. HOXD10 Mutations Associated With Congenital Vertical Talus and Pes Cavus Claw-Toe Limb Abnormalities -- 93. HOXD13 and Synpolydactyly -- 94. EMX2, HESX1, Type I Schizencephaly, and Septo-.Optic Dysplasia -- 95. PDX1, Pancreatic Agenesis, and Type 2 Diabetes -- 96. MSX1, Hypodontia, Orofacial Clefting, and the Witkop Syndrome -- 97. MSX2 in Craniosynostosis and Defects of Skull Ossification -- 98. SHOX, Dyschondrosteosis, and Turner Syndrome -- 99. HLXB9 (MNX1), Sacral Agenesis, and the Currarino Syndrome -- 100. Branchio-.Oto-.Renal (BOR) Syndrome -- 101. PITX2 and PITX3: Axenfeld-.Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurological Impairment -- 102. and Congenital Heart Disease -- 103. LMX1B and the Nail-.Patella Syndrome -- 104. The ALX Homeobox Gene Family and Frontonasal Dysplasias -- 105. Simplex and Complex Microphthalmia Genes-.OTX2, RAX, VSX2, VAX1, SIX6, and HMX1 -- 106. PRRX1 -- 107. Developmental Abnormalities Due to Mutations in the Aristaless-.Related Homeobox Gene -- 108. PITX1-.Associated Congenital Lower Limb Malformations -- B: The Paired Box (PAX) Gene Family -- 109. The Paired Box (PAX) Gene Family: Introduction to Paired. Box Genes -- 110. PAX2 and the Renal-.Coloboma Syndrome -- 111. PAX3 and Waardenburg Syndrome Type 1 -- 112. PAX6, Aniridia, and Related Phenotypes -- 113. PAX9 and Hypodontia -- C: The Forkhead Gene Family -- 114. Introduction to Forkhead Genes.

115. FOXC1, FOXL2, the Axenfeld-.Rieger Syndrome, and the Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome -- 116. FOXC2, FOXF1, and the 16q24.1-.Region Microdeletions: Lymphatic, Vascular, Cardiac, and Other Phenotypes -- 117. FOXE1: Bamforth-.Lazarus Syndrome, Thyroid Dysgenesis, and Thyroid Cancer Predisposition -- 118. AGGF1 and Vascular Disease: Klippel-.Trenaunay Syndrome -- D: The T-.Box Gene Family -- 119. Introduction to the T-.Box Genes: Their Evolution and Roles in Development -- 120. The 22q11.2 Deletion Syndrome and TBX1 -- 121. TBX3, TBX5, and the Ulnar-.Mammary and Holt-.Oram Syndromes -- 122. TBX22, X-.linked Cleft Palate, and Ankyloglossia -- E: The SOX Gene Family -- 123. Sox Genes in Development and Disease -- 124. SOX2 and Malformations of the Eye, Brain, Foregut, and Male Genital Tract -- 125. SOX3 and Infundibular Hypoplasia -- 126. SOX9, Campomelic Dysplasia, and Sex Reversal -- 127. SOX18 and the Hypotrichosis-.Lymphedema-.Telangiectasia Syndrome -- F: Transcription Factors -- 128. MITF and the Waardenburg Type II and Albinism-.Deafness (Tietz) Syndromes -- 129. POU3F4 and Mixed Deafness With Temporal Bone Defect (DFNX2) -- 130. Char and Branchio-.Oculo-.Facial Syndromes: The AP-.2 Transcription Factor Defects -- 131. GATA3, Hypoparathryoidism, Deafness, and Renal Disease -- 132. FOG-.2 (now ZFPM2), GATA-.4, Congenital Heart Disease, and Diaphragmatic Hernia -- 133. PTF1A: Pancreatic and Cerebellar Agenesis -- 134. RAI1, Smith-.Magenis Syndrome, and Potocki-.Lupski Syndrome -- 135. SALL4 and the Duane Radial-.Ray/.Okihiro and Acro-.Renal-.Ocular Syndromes -- 136. HNF1B-.MODY: A Disorder of Development With Diabetes and Congenital Malformations in the Pancreas and Urogenital Tract Due to Mutations in HNF1B -- 137. ZIC1, ZIC4, and FOXC1 in Dandy-.Walker Malformation -- 138. MED12 and Opitz-.Kaveggia Syndrome.

139. Börjeson-.Forssman-.Lehmann Syndrome and PHF6.

Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. It is a top-to-bottom revision of the landmark text that both revolutionized and accelerated the field of human genetics.

Description based on publisher supplied metadata and other sources.

Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries.

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