A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

• المؤلفون الرئيسيون: Kantaputra P.N., Mundlos S., Sripathomsawat W.
• التنسيق: مقال
• اللغة: English
• منشور في: 2014
• الوصول للمادة أونلاين: http://www.scopus.com/inward/record.url?eid=2-s2.0-78049320449&partnerID=40&md5=91efbcf2bd8edf877023bc0bd1f6e7fb; http://www.ncbi.nlm.nih.gov/pubmed/20949531; http://cmuir.cmu.ac.th/handle/6653943832/1035

Al-Awadi/Raas-Rothschild/Schinzel phocomelia (AARRS) syndrome, a rare autosomal recessive disorder, comprises malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. Mutations in WNT7A have been reported as cause of the syndrome. We report on two sisters in a...