title: Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome.
authors.affiliation: Department of Pediatrics, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates. E-mail. FABastaki@dha.gov.ae.
authors.forename: Fatma
authors.initials: F
authors.lastname: Bastaki
authors.forename: Fatima
authors.initials: F
authors.lastname: Saif
authors.forename: Mahmoud T
authors.initials: MT
authors.lastname: Al Ali
authors.forename: Abdul Rezzak
authors.initials: AR
authors.lastname: Hamzeh
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000150:complications / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense; D050761:Cyclin-Dependent Kinase Inhibitor p57 / Q000235:genetics*; D006554:Hernia, Umbilical / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D014479:United Arab Emirates
chemical_list: C493964:CDKN1C protein, human; D018389:Codon, Nonsense; D050761:Cyclin-Dependent Kinase Inhibitor p57
references.citation: Cell. 2007 May 18;129(4):665-79
references.pmid: 17512402
references.citation: Am J Med Genet A. 2008 Jul 1;146A(13):1707-12
references.pmid: 18546283
references.citation: Expert Rev Mol Med. 2006;8(17):1-19
references.pmid: 16842655
references.citation: J Med Genet. 1999 Jul;36(7):518-23
references.pmid: 10424811
references.citation: Genes Dev. 1995 Mar 15;9(6):639-49
references.pmid: 7729683