A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

• المؤلفون الرئيسيون: Kantaputra P.N., Sittiwangkul R., Sonsuwan N., Romanelli V., Tenorio J., Lapunzina P.
• التنسيق: مقال
• اللغة: English
• منشور في: 2014
• الوصول للمادة أونلاين: http://www.ncbi.nlm.nih.gov/pubmed/23197429; http://www.scopus.com/inward/record.url?eid=2-s2.0-84871676091&partnerID=40&md5=7da7eadce55bd0fa48cef97638b9e6ea; http://cmuir.cmu.ac.th/handle/6653943832/3990

We report on two daughters and a son of a Thai family who were affected with BWS. Their clinical findings consist of cleft palate, omphalocele, anterior ear creases, indented lesions on the posterior rim of the helix, macroglossia, posterior crossbite, and anterior open bite. The younger daughter an...