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Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare autosomal dominant genetic disorder and the most disabling condition of heterotopic (extraskeletal) ossification in humans. Mutations in the ACVR1 gene (MIM 102576) were identified as a genetic cause of FOP [Shore et al., 2006]. Most...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Hüning, Irina, Gillessen-Kaesbach, Gabriele
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: S. Karger AG 2014
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4188166/
https://ncbi.nlm.nih.gov/pubmed/25337067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000365770
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