Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders affecting approximately 1/3500 individuals in all ethnic groups. It is characterized by cutaneous and plexiform neurofibromas, café-au-lait spots, Lisch nodules, freckling in axillary and inguinal regions, optic gliomas and an increased risk of malignancy. The mutation rate of NF1 is one of the highest known for human disorders: approximately 50
作者：Y K, Terzi；S, Oguzkan-Balci；B, Anlar；S, Aysun；S, Guran；S, Ayter
来源：Genetic counseling (Geneva, Switzerland) 2009 年 20卷 2期
