Inborn Errors of Development

Inborn Errors of Development

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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.105-2). The function of these SnoRNAs is not proven, but the C/D box SnoRNAs appear to function as guides for site specific ... We believe that the central nervous system abnormalities are primary results of the genetic change, but that most, if not all, ... a combination of genetic, molecular, biochemical and clinical studies using humans and mouse models answers are ... Small evolutionary conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCRI. a novelanbsp;...

Title:Inborn Errors of Development
Author: Charles J. Epstein, Robert P. Erickson, Anthony Joseph Wynshaw-Boris
Publisher:Oxford University Press, USA - 2008

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