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Atlas of X-linked intellectual disability syndromes Cover Image

E-book

Atlas of X-linked intellectual disability syndromes

Stevenson, Roger E. 1940- (Author). Schwartz, Charles E. (Added Author). Rogers, R. Curtis (Richard Curtis), 1953- (Added Author). Stevenson, Roger E. 1940- X-linked mental retardation. (Added Author).

Summary: 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 differ.

Record details

ISBN: 0199811792
ISBN: 9780199811793
ISBN: 0199811865
ISBN: 9780199811861
Physical Description: 1 online resource (xvii, 344 pages) : illustrations
remote
Edition: Second edition.
Publisher: Oxford ; New York : Oxford University Press, [2012]
Copyright: ©2012

Content descriptions

General Note:	Multi-User. CatMonthString:august.17
Bibliography, etc. Note:	Includes bibliographical references and index.
Formatted Contents Note:	Mucopolysaccharidosis iiamyotubular myopathy; n-alpha-acetyltransferase deficiency; nance-horan syndrome; norrie disease; opitz fg syndrome; optic atrophy, x-linked; oral-facial-digital syndrome i; ornithine transcarbamoylase deficiency; otopalatodigital syndrome i (see also flna-associated xlid); otopalatodigital syndrome ii (see also flna-associated xlid); paine syndrome; pallister w syndrome; partington syndrome (see also arx-associated xlid); pelizaeus-merzbacher syndrome; periventricular nodular heterotopia (see also flna-associated xlid); pettigrew syndrome.
Restrictions on Access Note:	Restrictions: NLC students and staff only.
Terms Governing Use and Reproduction Note:	Access requires VIU IP addresses and is restricted to VIU students, faculty and staff. Access restricted by subscription.
Source of Description Note:	Print version record.