A boy with neurofibromatosis 1 and Poland anomaly.

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 stern...

Topics

Child, Preschool
Humans
Karyotyping
Male
Neurofibromatosis 1
Phenotype
Poland Syndrome

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.