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dc.contributor.authorPiranit Nik Kantaputraen_US
dc.contributor.authorRekwan Sittiwangkulen_US
dc.contributor.authorNuntigar Sonsuwanen_US
dc.contributor.authorValeria Romanellien_US
dc.contributor.authorJair Tenorioen_US
dc.contributor.authorPablo Lapunzinaen_US
dc.description.abstractWe report on two daughters and a son of a Thai family who were affected with BWS. Their clinical findings consist of cleft palate, omphalocele, anterior ear creases, indented lesions on the posterior rim of the helix, macroglossia, posterior crossbite, and anterior open bite. The younger daughter and son had newly recognized findings of the BWS including sensorineural hearing loss and supernumerary flexion creases of the fingers. A novel mutation in CDKN1C (c.579delT; p.A193AfsX46) was found in all affected individuals and their mother. This mutation is located in the central highly polymorphic hexanucleotide repeat encoding a proline-alanine series of repeats (PAPA-domain). This domain is involved in MAP kinase phosphorylation. This is for the first time that sensorineural hearing loss and supernumerary flexion creases of the fingers are associated with mutation in CDKN1C. © 2012 Wiley Periodicals, Inc.en_US
dc.subjectBiochemistry, Genetics and Molecular Biologyen_US
dc.titleA novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creasesen_US
article.title.sourcetitleAmerican Journal of Medical Genetics, Part Aen_US
article.volume161en_US Mai Universityen_US Clinicen_US Universitario La Pazen_US de Salud Carlos IIIen_US
Appears in Collections:CMUL: Journal Articles

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