Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation

Fibrodysplasia ossificans progressiva is a rare autosomal dominantly inherited disorder of connective tissue caused by mutations in the gene encoding for ACVR1/ALK2, a bone morphogenetic protein type I receptor. It is mainly characterized by congenital malformations of the great toes and the formati...

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Detalles Bibliográficos
Autores principales: Saleh, Mohammed, Commandeur, Joost, Bocciardi, Renata, Kinabo, Grace, Hamel, Ben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769042/
https://www.ncbi.nlm.nih.gov/pubmed/26966495
http://dx.doi.org/10.11604/pamj.2015.22.299.8032

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