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Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene

Usta, Akın; Karademir, Dilay; Sen, Eylem; Yazıcı, Selçuk; Adalı, Ertan; Erdem, Erkan; Karacan, Meriç (African Field Epidemiology Network-Afenet, 2017)

Osteogenesis imperfecta is a clinically heterogenous disease caused by defective collagen syntesis associated with a mutation in the COL1A1 or COL1A2 genes. In this report, we present a case of osteogenesis imperfecta (OI) ...