First description of a type v osteogenesis imperfecta clinical case with severe skeletal deformities caused by a mutation p.119C> T in IFITM5 gene in Russia

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. Main clinical manifestations include recurring pathological fractures and progressive skeletal deformation. Five types of OI are distinguished based on clinical symptoms. In most cases, the disease is caused by mutations in the...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Tatiana A. Grebennikova, Alina O. Gavrilova, Anatoly N. Tiulpakov, Natalya V. Tarbaeva, Zhanna E. Belaya, Galina A. Melnichenko
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Endocrinology Research Centre 2020-02-01
Σειρά:	Остеопороз и остеопатии
Θέματα:	osteogenesis imperfecta ifitm5 bril teriparatide fracture
Διαθέσιμο Online:	https://osteo-endojournals.ru/osteo/article/viewFile/12103/pdf
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