Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements

Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare genetic disorder characterized by congenital great toe malformations and progressive heterotopic ossification transforming skeletal muscles and connective tissues to bone following a well-defined anatomic pattern of progression. Recen...

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Main Authors: Bocciardi, Renata, Bordo, Domenico, Di Duca, Marco, Di Rocco, Maja, Ravazzolo, Roberto
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2009
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986177/
https://ncbi.nlm.nih.gov/pubmed/18830232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.178
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