Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation

• Main Authors: Pranoot Tanpaiboon, Rekwan Sittiwangkul, Prapai Dejkhamron, Metawee Srikummool, Warissara Sripathomsawat, Piranit Kantaputra
• Format: Journal
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=68049113481&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/59355
• Institution: Chiang Mai University

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 a...