Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation

• المؤلفون الرئيسيون: Piranit Nik Kantaputra, Ans van den Ouweland, Tumtip Sangruchi, Chanin Limwongse
• التنسيق: دورية
• منشور في: 2018
• الموضوعات: Biochemistry, Genetics and Molecular Biology; Medicine
• الوصول للمادة أونلاين: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84862704574&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/51380

A Thai woman, who was affected with neurofibromatosis type 1, was followed up and re-evaluated at ages 45, 61, and 67 years. Her mother and her three brothers were also affected. The proposita was very severely affected. She was born blind with underdeveloped eyeglobes and had large plexiform neurof...