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Rubinstein-Taybi Syndrome and Crebbp C.201_202delta Mutation: a Case Presenting With Varicella Meningoencephalitis

dc.authorscopusid 7101974609
dc.authorscopusid 35241953100
dc.authorscopusid 36180210800
dc.authorscopusid 26030045000
dc.authorscopusid 16834732700
dc.authorscopusid 8421729700
dc.authorwosid Bartsch, Oliver/Abe-2681-2020
dc.authorwosid Temel, Hayrettin/Aaq-3801-2020
dc.authorwosid Okur, Mesut/Aas-6957-2020
dc.contributor.author Caksen, H.
dc.contributor.author Bartsch, O.
dc.contributor.author Okur, M.
dc.contributor.author Temel, H.
dc.contributor.author Acikgoz, M.
dc.contributor.author Yilmaz, C.
dc.date.accessioned 2025-05-10T17:58:59Z
dc.date.available 2025-05-10T17:58:59Z
dc.date.issued 2009
dc.department T.C. Van Yüzüncü Yıl Üniversitesi en_US
dc.department-temp [Caksen, H.; Yilmaz, C.] Yuzuncu Yil Univ, Fac Med, Dept Pediat Neurol, TR-65100 Van, Turkey; [Bartsch, O.] Johannes Gutenberg Univ Mainz, Inst Human Genet, Univ Med, Mainz, Germany; [Okur, M.; Temel, H.; Acikgoz, M.] Yuzuncu Yil Univ, Fac Med, Dept Pediat, TR-65100 Van, Turkey en_US
dc.description.abstract Rubinstein-Taybi syndrome and CREBBP c.201_202delTA mutation: A case presenting with varicella meningoencephalitis: Rubinstein-Taybi syndrome (RTS) is a rare syndrome with a frequency of approximately 1 in 125,000 affected newborns, which is characterized by mental retardation, growth retardation, a particular dysmorphology and, in a subset of cases, immunodeficiency. RTS is typically caused by CREBBP deficiency, and heterozygous mutation or deletion of the CREBBP gene has been identified in 60-70% of patients. The inheritance is autosomal dominant but reports of vertical transmission are exceedingly rare; near-all cases are caused by de novo mutations. Here we present an 8-month-old boy with varicella meningoencephalitis, RTS, and a de novo deletion of the CREBBP gene of two base pairs at position 201-202 in exon 2, c. 201_202derr. The mutation has not been described previously but it predicts a protein truncation, and truncating CREBBP mutations are typical causes of RTS. en_US
dc.description.woscitationindex Science Citation Index Expanded
dc.identifier.endpage 260 en_US
dc.identifier.issn 1015-8146
dc.identifier.issue 3 en_US
dc.identifier.pmid 19852432
dc.identifier.scopus 2-s2.0-70350142762
dc.identifier.scopusquality N/A
dc.identifier.startpage 255 en_US
dc.identifier.uri https://hdl.handle.net/20.500.14720/20394
dc.identifier.volume 20 en_US
dc.identifier.wos WOS:000270670900007
dc.identifier.wosquality N/A
dc.language.iso en en_US
dc.publisher Medecine Et Hygiene en_US
dc.relation.ispartof Genetic Counseling en_US
dc.relation.publicationcategory Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı en_US
dc.rights info:eu-repo/semantics/closedAccess en_US
dc.subject Rubinstein-Taybi Syndrome en_US
dc.subject Immunodeficiency en_US
dc.subject Meningoencephalitis en_US
dc.subject Mutation en_US
dc.title Rubinstein-Taybi Syndrome and Crebbp C.201_202delta Mutation: a Case Presenting With Varicella Meningoencephalitis en_US
dc.type Article en_US

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