학술논문
Fibrodysplasia ossificans progressive: A case report.
Document Type
Article
Author
Source
Subject
*FIBRODYSPLASIA ossificans progressiva
*PROTEINS
*
Language
ISSN
1562-4765
Abstract
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare autosomal dominant disorder having variable expressivity with complete penetrance. FOP incidence has been estimated to be 1 per 2 million. FOP caused by mutations in ACVR1 gene encoding bone morphogenetic protein type- 1 receptor. To date, 15 types of mutations have been reported. The majority of cases were determined to be the rsult of a new mutation occuring sporadically. Here we report a 20 years old girl who's suffering FOP for 11 years. [ABSTRACT FROM AUTHOR]