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

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...

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Bibliographic Details
Main Authors: Tanpaiboon P., Sittiwangkul R., Dejkhamron P., Srikummool M., Sripathomsawat W., Kantaputra P.
Format: Article
Language:English
Published: 2014
Online Access:http://www.scopus.com/inward/record.url?eid=2-s2.0-68049113481&partnerID=40&md5=6c0088e0a7b37249f4fcbf6f878ef8e4
http://www.ncbi.nlm.nih.gov/pubmed/19606477
http://cmuir.cmu.ac.th/handle/6653943832/2821
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Institution: Chiang Mai University
Language: English