[Fibrodysplasia ossificans progressive: a case report]
Journal of Gorgan University of Medical Sciences. 2017; 18 (4): 111-115
Dans Persan
| 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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Indice:
Méditerranée orientale
Sujet Principal:
Pénétrance
/
Myosite ossifiante
Type d'étude:
Enquête cas-témoins / Études cas/témoins
Limites du sujet:
Femelle
/
Humains
langue:
Persan
Texte intégral:
J. Gorgan Univ. Med. Sci.
Année:
2017
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