Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

BACKGROUND: Fibrodysplasia Ossificans Progressiva (FOP; OMIM#135100) is an ultra-rare, severely disabling genetic disease characterized by congenital malformation of the great toes and progressive heterotopic ossification (HO) in muscles, tendons, ligaments, fascia, and aponeuroses often preceded by...

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Bibliografski detalji
Izdano u:Orphanet J Rare Dis
Glavni autori: Pignolo, Robert J., Baujat, Geneviève, Brown, Matthew A., De Cunto, Carmen, DiRocco, Maja, Hsiao, Edward C., Keen, Richard, Al Mukaddam, Mona, Sang, Kim-Hanh Le Quan, Wilson, Amy, White, Barbara, Grogan, Donna R., Kaplan, Frederick S.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2019
Teme:
Research
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6499994/
https://ncbi.nlm.nih.gov/pubmed/31053156
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1068-7
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