Ontology highlight
ABSTRACT:
SUBMITTER: Hammond P
PROVIDER: S-EPMC3356438 | biostudies-literature | 2012 Jun
REPOSITORIES: biostudies-literature
Hammond Peter P Suttie Michael M Hennekam Raoul C RC Allanson Judith J Shore Eileen M EM Kaplan Frederick S FS
American journal of medical genetics. Part A 20120511 6
Fibrodysplasia ossificans progressiva (FOP) causes extensive heterotopic bone formation due to heterozygous mutations in the glycine-serine activation domain of ACVR1 (ALK2), a bone morphogenetic protein type I receptor. Anecdotal observations of facial similarity have been made by clinicians and parents, but no objective quantitative analysis of the faces of FOP patients has ever been undertaken. We delineated the common facial characteristics of 55 individuals with molecularly confirmed FOP by ...[more]