Velo-Cardio-Facial Syndrome 在线电子书 pdf 下载 txt下载 epub 下载 mobi 下载 2024

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Murphy, Kieran C. (EDT)/ Scambler, Peter J. (EDT) 作者

Cambridge Univ Pr

译者

2005-6 出版日期

256 页数

$ 244.08 价格

HRD

丛书系列

9780521821858 图书编码

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Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. It has been authored by leading international VCFS clinicians/researchers. The focus is on clinical issues with chapters devoted to psychiatric disorders (with the sufferer showing very high levels of schizophrenia), neuroimaging, speech and language disorders, as well as cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. As VCFS is seen as a paradigm for other microdeletion disorders, this book will not just appeal to clinicians seeing VCFS patients, but also to those interested in other genetic disorders.

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