New PDF release: Atlas of X-Linked Intellectual Disability Syndromes

By Roger E. Stevenson MD,Charles E. Schwartz,R. Curtis Rogers

The Atlas of X-Linked highbrow incapacity Syndromes is a accomplished and updated precis of the clinically certain problems attributable to genes at the X chromosome. scientific and laboratory info on a hundred and fifty syndromes are awarded in a concise and constant demeanour. each one syndrome is outlined and data is equipped on somatic good points, development and improvement, neurological indicators, cognitive functionality, imaging and different laboratory findings, and whilst attainable, the character and localization of the liable gene. Craniofacial and different somatic findings are generally illustrated. A differential matrix accompanies each one syndrome description to aid the reader in opting for different X-linked syndromes with overlapping beneficial properties. person syndrome entries are supplemented with nineteen appendices that determine syndromes with universal positive aspects and supply the site or mapping limits and serve as of the liable genes.

The authors have broad event within the medical and laboratory delineation of X-linked highbrow incapacity. they've got defined new syndromes, domestically mapped illness loci at the X chromosome, and pointed out the genes answerable for X-linked syndromes.

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Atlas of X-Linked Intellectual Disability Syndromes by Roger E. Stevenson MD,Charles E. Schwartz,R. Curtis Rogers

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