Fibrodysplasia ossificans progressiva in a 3-year-old female patient

• 主要な著者: Cecilia Moreira (著者), Gabriel Dapueto (著者), Gabriel Peluffo (著者), Alejandra Vomero (著者), Alejandra Tapié (著者), Soledad Rodríguez (著者), Victor Raggio (著者), Rodrigo Suárez (著者), Gustavo Giachetto (著者), Loreley García (著者)
• フォーマット: 図書
• 出版事項: Permanyer, 2023-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Background: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disease affecting connective tissue, primarily caused by de novo mutations of the ACVR1 gene. FOP is a disease with congenital malformations of the toes and heterotopic ossification in characteristic patterns that p...