Description

Honored by the Association of American Publishers as the Best Medical Book of 2004, Inborn Errors is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and Inborn Errors is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the structural/functional disorder. Mutations of the gene, the clinical picture, genetic counseling and prognosis, and any known treatments are discussed. For medical geneticists, genetic counselors, pediatricians, and developmental biologists, the book is a unique and groundbreaking reference.

Reviews

"The editors have outdone themselves with this edition of their wonderful review of the link between morphogenesis and aberrant morphogenesis as directed by gene expression...This is a masterpiece...This is an impressive and exciting book, a must-have for clinical geneticists and basic scientists at all levels of their careers. There is no publication comparable to this wonderful and well edited and written book. The quality is exceptional."-- Doody's

"...amazingly comprehensive...This book is an extraordinary accomplishment; no clinical geneticist can function without it."--American Journal of Medical Genetics

"...the editors and authors have excelled in communicating mind-bogglingly complex processes to a very wide readership who may now marvel and consider how lucky we are to be studying, researching or otherwise employed at such a moment in time."--Human Genetics

Product Details

1664 pages; 500 illus.; 8-1/2 x 11; ISBN13: 978-0-19-530691-0ISBN10: 0-19-530691-0

About the Author(s)

Companion Resources

The following resources are available from the "Inborn Errors of Development" companion site:

• Chapter 1
• Chapter 5
• Chapter 9
• Chapter 11
• Chapter 12
• Chapter 15
• Chapter 17
• Chapter 19
• Chapter 20
• Chapter 21
• Chapter 23
• Chapter 25
• Chapter 30
• Chapter 31
• Chapter 33
• Chapter 35
• Chapter 36
• Chapter 37
• Chapter 39
• Chapter 40
• Chapter 41
• Chapter 43
• Chapter 44
• Chapter 46
• Chapter 47
• Chapter 48
• Chapter 49
• Chapter 51
• Chapter 53
• Chapter 54
• Chapter 55
• Chapter 56
• Chapter 60
• Chapter 61
• Chapter 62
• Chapter 63
• Chapter 64
• Chapter 68
• Chapter 72
• Chapter 77
• Chapter 78
• Chapter 79
• Chapter 82
• Chapter 83
• Chapter 84
• Chapter 86
• Chapter 88
• Chapter 89
• Chapter 90
• Chapter 91
• Chapter 92
• Chapter 93
• Chapter 94
• Chapter 95
• Chapter 97
• Chapter 103
• Chapter 105
• Chapter 111
• Chapter 115
• Chapter 119
• Chapter 122
• Chapter 123
• Chapter 126
• Chapter 128
• Chapter 130
• Chapter 131
• Chapter 133
• Chapter 134
• Chapter 135
• Chapter 137
• Chapter 138
• Chapter 140
• Chapter 141
• Chapter 143
• Chapter 144
• Chapter 145
• Chapter 146
• Chapter 152
• Chapter 158
• Chapter 159
• Chapter 161
• Chapter 162
• Chapter 164
• Chapter 165
• Chapter 166
• Chapter 167
• Chapter 168
• Chapter 170
• Chapter 171
• Chapter 172
• Chapter 173
• Chapter 178
• Chapter 179
• Chapter 181
• Chapter 184
• Chapter 185