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The Face Signature of Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva (FOP) causes extensive heterotopic bone formation due to heterozygous mutations in the glycine-serine activation domain of ACVR1 (ALK2), a bone morphogenetic protein type I receptor. Anecdotal observations of facial similarity have been made by clinicians and pa...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2012
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3356438/ https://ncbi.nlm.nih.gov/pubmed/22581580 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35346 |
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