TY  - BOOK
AU  - Erickson,Robert P.
AU  - Wynshaw-Boris,Anthony J.
TI  - Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
T2  - Oxford Monographs on Medical Genetics Series
SN  - 9780190275426
AV  - RB155.5.E678 2016 
U1  - 616/.042 
PY  - 2016///
CY  - Oxford
PB  - Oxford University Press, Incorporated
KW  - Genetic disorders
KW  - Electronic books
N1  - 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
N2  - 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
UR  - https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=4705601
ER  -