A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene

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 ACVR1 gene...

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Detalles Bibliográficos
Autores principales: Cappato, Serena, Traberg, Rasa, Gintautiene, Jolita, Zara, Federico, Bocciardi, Renata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580088/
https://www.ncbi.nlm.nih.gov/pubmed/34347384
http://dx.doi.org/10.1002/mgg3.1774

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580088/
https://www.ncbi.nlm.nih.gov/pubmed/34347384
http://dx.doi.org/10.1002/mgg3.1774

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