Download PDF by Roger E. Stevenson MD,Charles E. Schwartz,R. Curtis Rogers: 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 entire and up to date precis of the clinically designated issues because of genes at the X chromosome. scientific and laboratory facts on one hundred fifty syndromes are offered in a concise and constant demeanour. each one syndrome is outlined and knowledge is equipped on somatic positive aspects, progress and improvement, neurological indicators, cognitive functionality, imaging and different laboratory findings, and whilst attainable, the character and localization of the dependable gene. Craniofacial and different somatic findings are greatly illustrated. A differential matrix accompanies each one syndrome description to help the reader in choosing different X-linked syndromes with overlapping positive factors. person syndrome entries are supplemented with nineteen appendices that establish syndromes with universal beneficial properties and supply the site or mapping limits and serve as of the accountable genes.

The authors have broad adventure within the scientific and laboratory delineation of X-linked highbrow incapacity. they've got defined new syndromes, domestically mapped sickness loci at the X chromosome, and pointed out the genes liable 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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