Inborn Errors of Development 2/e

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.