Article
A boy with neurofibromatosis 1 and Poland anomaly.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1994
Alembik Y, Stoll C
Abstract excerpt
Von Recklinghausen neurofibromatosis (NF1) is one of the most common autosomal dominant disorders and has one of the highest mutation rates of a single human locus. The NF1 gene has recently been mapped to proximal 17q. Poland anomaly consists of the combination of unilateral aplasia of the sternal head of the pectoralis major muscle and an ipsilateral anomaly of the hand. Although other defects may occur in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.