Article
Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation.
American journal of medical genetics. Part A - 1 Aug 2009
Tanpaiboon Pranoot, Sittiwangkul Rekwan, Dejkhamron Prapai, Srikummool Metawee, Sripathomsawat Warissara, Kantaputra Piranit
Abstract excerpt
Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation. Five cases have been reported. We report on...
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