Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature

Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant severe musculoskeletal disease characterized by extensive new bone formation within soft connective tissues and unique skeletal malformations of the big toes which represent a birth hallmark for the disease. Most of the isolated cl...

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Detalles Bibliográficos
Autores principales: Al-Haggar, Mohammad, Ahmad, Nermin, Yahia, Sohier, Shams, Amany, Hasaneen, Bothina, Hassan Hassan, Rasha, Wahba, Yahya, Salem, Nanees Abdel-Badie, Abdel-Hady, Dina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566490/
https://www.ncbi.nlm.nih.gov/pubmed/23424689
http://dx.doi.org/10.1155/2013/834605

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