A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene
Abstract Background Fibrodysplasia Ossificans Progressiva (FOP) is a rare autosomal dominant disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of soft tissues leading to cumulative disability. The genetic cause of FOP are mutations in the ACV...
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Autores principales: | Serena Cappato, Rasa Traberg, Jolita Gintautiene, Federico Zara, Renata Bocciardi |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Wiley
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/58b92b79a3a946e98f486780a9b02f10 |
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