Inborn Errors of Development

Inborn Errors of Development

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In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.Garcia-Heras J, Corley N, Garcia MF, Kukolich MK, Smith KG, Day DW (1999). ... Grimmond S, Van Hataren N, Siggers P. Arkell R, Larder R, Bento Soares M, de Fatima Bonaldo M, Smith L, ... A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346: 245-250. Gueallaen G .... Nakahoii Y, Tamua T, Nagafuchi S, Fujieda K, Minowada S. Fukutani K. Fuse H, Hayashi K, Kuroki Y, Fuknshima Y, anbsp;...

Title:Inborn Errors of Development
Author:Charles J. Epstein, Robert P. Erickson, Anthony Joseph Wynshaw-Boris
Publisher:Oxford University Press, USA - 2004


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