Phenotypic differences of patients with fibrodysplasia ossificans progressive due to p.Arg258Ser variants of ACVR1

Fibrodysplasia ossificans progressiva (FOP) is a rare, congenital disorder caused by heterozygous mutation of the bone morphogenetic protein type I receptor ACVR1. Various forms of atypical FOP have recently been identified, and a recurrent mutation, ACVR1 (p.Arg258Ser) was reported. We encountered...

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Detalles Bibliográficos
Autores principales: Nakahara, Yasuo, Suzuki, Ryuyo, Katagiri, Takenobu, Toguchida, Junya, Haga, Nobuhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785553/
https://www.ncbi.nlm.nih.gov/pubmed/27081558
http://dx.doi.org/10.1038/hgv.2015.55

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