Article
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2012
Okur M, Eroz R, Mundlos S, Senses D A, Ulgen E, Ismailler Z B, Ozcelik D
Abstract excerpt
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)...
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