Article
Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism.
American journal of medical genetics - 2 Feb 1996
Janoff H B, Muenke M, Johnson L O, Rosenberg A, Shore E M, Okereke E, Zasloff M, Kaplan F S
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of connective tissue characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the soft tissues in specific anatomic and temporal patterns. We observed classic findings of FOP in 2 Native American half-sisters with the same unaffected mother and different unaffected fathers. This is...
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