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 |
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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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