Article
Mutations in von Recklinghausen neurofibromatosis: an hypothesis.
American journal of medical genetics - 15 Apr 1993
Zlotogora J
Abstract excerpt
Von Recklinghausen neurofibromatosis or neurofibromatosis type I (NF1) is a relatively frequent (1/3,000 livebirths) autosomal dominant condition. Some unusual aspects are noted in this disorder: new mutations are frequent and almost all are of paternal origin without parental age effect. The recurrence of NF1 among children of healthy parents is rare as opposed to other dominant disorders. I propose that in NF1...
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