Publication: A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene
dc.contributor.author | Eser, Metin | |
dc.contributor.author | Ayaz, Akif | |
dc.contributor.author | YEŞİL, GÖZDE | |
dc.contributor.institutionauthor | YEŞİL, GÖZDE | |
dc.date.accessioned | 2019-11-17T23:44:07Z | |
dc.date.available | 2019-11-17T23:44:07Z | |
dc.date.issued | 2017-09-01 | |
dc.description.abstract | Rubinstein-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.citation | Eser 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.doi | 10.24953/turkjped.2017.05.017 | |
dc.identifier.pubmed | 29745126 | |
dc.identifier.scopus | 85046297589 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12645/10446 | |
dc.identifier.wos | WOS:000438380400017 | |
dc.language.iso | en | |
dc.rights | info:eu-repo/semantics/openAccess | en |
dc.title | A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene | |
dc.type | Article | |
dspace.entity.type | Publication | |
local.avesis.id | cd041f16-acf5-4c55-ac87-3136249d00e0 | |
local.publication.isinternational | 1 | |
relation.isAuthorOfPublication | b653abbc-327a-4b3b-a227-f3344d8d6b70 | |
relation.isAuthorOfPublication.latestForDiscovery | b653abbc-327a-4b3b-a227-f3344d8d6b70 |
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