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Multi-System Involvement in a Severe Variant of Fibrodysplasia Ossificans Progressiva (ACVR1 c.772G>A; R258G): A Report of Two Patients
Severe variants of fibrodysplasia ossificans progressiva (FOP) affect <2% of all FOP patients worldwide but provide an unprecedented opportunity to probe the phenotype-genotype relationships that propel the pathology of this disabling disease. We evaluated two unrelated children who had severe re...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4567450/ https://ncbi.nlm.nih.gov/pubmed/26097044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37205 |
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