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Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report

BACKGROUND: Fibrodysplasia ossificans progressiva (FOP), an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification, is caused by heterozygous activating mutations in activin A receptor, type I/activin-like kinase 2 (ACVR1/ALK2). The rarity of the...

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Detalles Bibliográficos
Autores principales:	Tian, Shengjie, Zhu, Jianhua, Lu, Yaogang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828422/ https://www.ncbi.nlm.nih.gov/pubmed/29482508 http://dx.doi.org/10.1186/s12881-018-0543-7

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