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A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene

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dc.contributor.authorEser, Metin
dc.contributor.authorAyaz, Akif
dc.contributor.authorYEŞİL, GÖZDE
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2019-11-17T23:44:07Z
dc.date.available2019-11-17T23:44:07Z
dc.date.issued2017-09-01
dc.description.abstractRubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a wide spectrum of multiple congenital anomalies and cognitive impairment. RSTS is primarily due to mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases) genes. A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad nasal bridge, triangular mouth and pointed chin and skeletal finding including broad great thumbs and halluces, and accessory nipple. With this paper, we reported a novel frameshift mutation which is led to premature stop codon in CREBBP gene. As a result, c.2057dupC, reported in this paper enlarges the molecular spectrum of disease-causing CREBBP gene.en
dc.identifier.citationEser M., Ayaz A., YEŞİL G., -A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene-, TURKISH JOURNAL OF PEDIATRICS, cilt.59, ss.601-603, 2017
dc.identifier.doi10.24953/turkjped.2017.05.017
dc.identifier.pubmed29745126
dc.identifier.scopus85046297589
dc.identifier.urihttps://hdl.handle.net/20.500.12645/10446
dc.identifier.wosWOS:000438380400017
dc.language.isoen
dc.rightsinfo:eu-repo/semantics/openAccessen
dc.titleA case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene
dc.typeArticle
dspace.entity.typePublication
local.avesis.idcd041f16-acf5-4c55-ac87-3136249d00e0
local.publication.isinternational1
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
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