A cardio-facio-cutaneous syndrome case with tight achilles tendons

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dc.contributor.authorHazan F.
dc.contributor.authorAykut A.
dc.contributor.authorHizarcioglu M.
dc.contributor.authorTavli V.
dc.contributor.authorOnay H.
dc.contributor.authorÖzkınay F.
dc.date.accessioned2019-10-26T21:45:11Z
dc.date.available2019-10-26T21:45:11Z
dc.date.issued2012
dc.departmentEge Üniversitesien_US
dc.description.abstractCardio-facio-cutaneous syndrome (CFCS) is a multiple congenital anomaly disorder characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay. Clinical findings of patients with CFCS show similarities to those of patients with Costello Syndrome (CS). CFCS and CS are caused by mutations in genes encoding proteins of the RAS-MAPK signaling pathway. Musculoskeletal findings including tight Achilles tendons and contractures of elbows, shoulders or hips have been reported in CS patients. However, limited extension of joints were observed in some patients with CFCS. According to the literature, no tight Achilles tendons have been reported in CFCS patients so far. In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis.en_US
dc.identifier.endpage311en_US
dc.identifier.issn1015-8146
dc.identifier.issue2en_US
dc.identifier.pmid22876591en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage305en_US
dc.identifier.urihttps://hdl.handle.net/11454/18494
dc.identifier.volume23en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBRAF geneen_US
dc.subjectCardio-facio-cutaneous syndromeen_US
dc.subjectTight achilles tendonsen_US
dc.titleA cardio-facio-cutaneous syndrome case with tight achilles tendonsen_US
dc.typeArticleen_US

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