[Fibrodysplasia ossificans progressive: a case report]
Journal of Gorgan University of Medical Sciences. 2017; 18 (4): 111-115
in Persian
| IMEMR
| ID: emr-189597
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
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Penetrance
/
Myositis Ossificans
Type of study:
Case report
Limits:
Female
/
Humans
Language:
Persian
Journal:
J. Gorgan Univ. Med. Sci.
Year:
2017
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