AUTS2 Syndrome in a 68-Year-Old Female: Natural History and Further Delineation of the Phenotype

Basit Öğe Kaydı
dc.authorid0000-0002-5314-3406en_US
dc.contributor.authorSengun, Ece
dc.contributor.authorYararbas, Kanay
dc.contributor.authorKasakyan, Serdar
dc.contributor.authorAlanay, Yasemin
dc.date.accessioned2024-07-12T21:44:33Z
dc.date.available2024-07-12T21:44:33Z
dc.date.issued2016en_US
dc.departmentMaltepe Üniversitesien_US
dc.description.abstractHere we summarize the clinical and molecular findings in a 68-year-old female with dysmorphic features, mild-to-moderate intellectual disability, and behavioral findings suggesting autism spectrum disorder. SNP array analysis demonstrated a 257 kb deletion comprising exon 6 of AUTS2. This clinical report provides the natural history in the eldest patient yet to be reported, and complements the existing evidence suggesting that disruption of the AUTS2 leads to a recently delineated neurodevelopmental phenotype with a wide spectrum, namely "AUTS2 Syndrome." (C) 2016 Wiley Periodicals, Inc.en_US
dc.identifier.doi10.1002/ajmg.a.37882
dc.identifier.endpage3236en_US
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.issue12en_US
dc.identifier.pmid27531620en_US
dc.identifier.scopus2-s2.0-84995780916en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage3231en_US
dc.identifier.urihttps://dx.doi.org/10.1002/ajmg.a.37882
dc.identifier.urihttps://hdl.handle.net/20.500.12415/7736
dc.identifier.volume170en_US
dc.identifier.wosWOS:000388199100026en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherWILEY-BLACKWELLen_US
dc.relation.ispartofAMERICAN JOURNAL OF MEDICAL GENETICS PART Aen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmzKY00163
dc.subjectAUTS2en_US
dc.subjectintellectual disabilityen_US
dc.subjectautism spectrum disorderen_US
dc.subjectdevelopmental delayen_US
dc.titleAUTS2 Syndrome in a 68-Year-Old Female: Natural History and Further Delineation of the Phenotypeen_US
dc.typeArticle
dspace.entity.typePublication

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