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

• المؤلفون الرئيسيون: Tanpaiboon P., Sittiwangkul R., Dejkhamron P., Srikummool M., Sripathomsawat W., Kantaputra P.
• التنسيق: مقال
• اللغة: English
• منشور في: 2014
• الوصول للمادة أونلاين: 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
• المؤسسة: 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...