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- 內容介紹
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Atlas of X-Linked Intellectual Disability Syndromes
Second Edition
Roger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers
OUP USA
432 pages | 500 | 279x216mm
978-0-19-981179-3 | Hardback | 12 July 2012
Each chapter contains a differential matrix for each XLID syndrome and extensive illustrations of clinical features
Written by authorities actively involved in clinical delineation and research of X-linked intellectual disability
Contains comprehensive coverage of all XLID syndromes; all major XLID syndromes defined at the molecular level
The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. Individual syndrome entries are supplemented with nineteen appendices that identify syndromes with common features and provide the location or mapping limits and function of the responsible genes.
The authors have extensive experience in the clinical and laboratory delineation of X-linked intellectual disability. They have described new syndromes, regionally mapped disease loci on the X chromosome, and identified the genes responsible for X-linked syndromes.
Readership: Clinical geneticists, molecular geneticists, developmental pediatricians, genetic counselors, neuroscientists including neurologists, it will also appeal to all students of human development.
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