Atlas of X-Linked Intellectual Disability Syndromes

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Title:	Atlas of X-Linked Intellectual Disability Syndromes
Description:	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.
Authors:	Roger E. Stevenson MD, Charles E. Schwartz, R. Curtis Rogers
Resource Type:	eBook.
Subjects:	X-linked mental retardation, X-linked mental retardation--Atlases
Categories:	MEDICAL / Evidence-Based Medicine, HEALTH & FITNESS / Diseases & Conditions / General, MEDICAL / Clinical Medicine, MEDICAL / Diseases, MEDICAL / Internal Medicine
Database:	eBook Collection (EBSCOhost)

FullText	Links: – Type: ebook-pdf Text: Availability: 0
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Items	– Name: Title Label: Title Group: Ti Data: Atlas of X-Linked Intellectual Disability Syndromes – Name: Abstract Label: Description Group: Ab Data: 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. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Roger+E%2E+Stevenson+MD%22">Roger E. Stevenson MD</searchLink><br /><searchLink fieldCode="AR" term="%22Charles+E%2E+Schwartz%22">Charles E. Schwartz</searchLink><br /><searchLink fieldCode="AR" term="%22R%2E+Curtis+Rogers%22">R. Curtis Rogers</searchLink> – Name: TypePub Label: Resource Type Group: TypPub Data: eBook. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22X-linked+mental+retardation%22">X-linked mental retardation</searchLink><br /><searchLink fieldCode="DE" term="%22X-linked+mental+retardation--Atlases%22">X-linked mental retardation--Atlases</searchLink> – Name: SubjectBISAC Label: Categories Group: Su Data: <searchLink fieldCode="ZK" term="%22MEDICAL+%2F+Evidence-Based+Medicine%22">MEDICAL / Evidence-Based Medicine</searchLink><br /><searchLink fieldCode="ZK" term="%22HEALTH+%26+FITNESS+%2F+Diseases+%26+Conditions+%2F+General%22">HEALTH & FITNESS / Diseases & Conditions / General</searchLink><br /><searchLink fieldCode="ZK" term="%22MEDICAL+%2F+Clinical+Medicine%22">MEDICAL / Clinical Medicine</searchLink><br /><searchLink fieldCode="ZK" term="%22MEDICAL+%2F+Diseases%22">MEDICAL / Diseases</searchLink><br /><searchLink fieldCode="ZK" term="%22MEDICAL+%2F+Internal+Medicine%22">MEDICAL / Internal Medicine</searchLink>
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RecordInfo	BibRecord: BibEntity: Classifications: – Code: 616.8588042 Scheme: ddc Type: prePub Languages: – Code: eng Text: English Subjects: – SubjectFull: X-linked mental retardation Type: general – SubjectFull: X-linked mental retardation--Atlases Type: general Titles: – TitleFull: Atlas of X-Linked Intellectual Disability Syndromes Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Roger E. Stevenson MD – PersonEntity: Name: NameFull: Charles E. Schwartz – PersonEntity: Name: NameFull: R. Curtis Rogers – PersonEntity: Name: NameFull: Roger E. Stevenson MD – PersonEntity: Name: NameFull: Charles E. Schwartz – PersonEntity: Name: NameFull: R. Curtis Rogers IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Type: published Y: 2012 – D: 04 M: 02 Type: profile Y: 2014 Identifiers: – Type: isbn-print Value: 9780199811793 – Type: isbn-electronic Value: 9780199811861 Titles: – TitleFull: Atlas of X-Linked Intellectual Disability Syndromes Type: main
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