| Literature DB >> 8411056 |
J M Connor1, H Skirton, P W Lunt.
Abstract
A family with five persons affected with fibrodysplasia ossificans progressiva (myositis ossificans progressiva) in three generations is described. This is the first well documented three generation family with this condition and provides further evidence for autosomal dominant inheritance. A wide range of phenotypic severity is apparent, from disabling ectopic bone formation and premature death to an asymptomatic adult with characteristic big toe malformations.Entities:
Mesh:
Year: 1993 PMID: 8411056 PMCID: PMC1016500 DOI: 10.1136/jmg.30.8.687
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318