Novel Mutations in ACVR1 Result in Atypical Features in Two Fibrodysplasia Ossificans Progressiva Patients

Fibrodysplasia Ossificans Progressiva (FOP) is a rare, heritable condition typified by progression of extensive ossification within skeletal muscle, ligament and tendon together with defects in skeletal development. The condition is easily diagnosed by the presence of shortened great toes and there...

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Detalles Bibliográficos
Autores principales: Petrie, Kirsten A., Lee, Wen Hwa, Bullock, Alex N., Pointon, Jenny J., Smith, Roger, Russell, R. Graham G., Brown, Matthew A., Wordsworth, B. Paul, Triffitt, James T.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2658887/
https://www.ncbi.nlm.nih.gov/pubmed/19330033
http://dx.doi.org/10.1371/journal.pone.0005005

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