Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disease with an estimated prevalence of 1/2000000. Classic FOP is caused by a recurrent activating mutation in the gene ACVR1 / ALK2. It has an autosomal dominant transmission pattern but  in most cases occurs spontaneously. (1) Pa...

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Autores principales: Fábio Sousa, Patrícia Gomes, João Castro, Patrícia Gamelas
Formato: article
Lenguaje:EN
PT
Publicado: Sociedade Portuguesa de Pediatria 2021
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Acceso en línea:https://doaj.org/article/d2cdf669b4584f32aedfaf5710769f0b
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