title: EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report.
abstract: EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft lip and/or palate and associated anomalies such as lacrimal duct obstruction, urinary tract anomaly, and hearing loss. This syndrome is a rare autosomal dominant disorder caused by heterozygous mutations in the p63 gene. Herein, a newborn infant with EEC syndrome with secundum atrial septal defect who had a de novo mutation (c.953G > A) on exon 7 of p63 gene is presented.
authors: Duzce University Medical Faculty, Department of Pediatrics, Duzce, Turkey. okurmesut@yahoo.com
authors: M
authors: M
authors: Okur
authors: R
authors: R
authors: Eroz
authors: S
authors: S
authors: Mundlos
authors: D A
authors: DA
authors: Senses
authors: E
authors: E
authors: Ulgen
authors: Z B
authors: ZB
authors: Ismailler
authors: D
authors: D
authors: Ozcelik
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002971:Cleft Lip / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D002972:Cleft Palate / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D004476:Ectodermal Dysplasia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006344:Heart Septal Defects, Atrial / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: C081876:CKAP4 protein, human; D008565:Membrane Proteins