Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G T; p.Gly187Val) in the COL1A2 gene
Osteogenesis imperfecta is a clinically heterogenous disease caused by defective collagen syntesis associated with a mutation vista 5 vl5 in the COL1A1 or COL1A2 genes.In this report, we present a case of osteogenesis imperfecta (OI) type IV, seen in a female fetus with incurved femurs at 18 weeks of gestation.Molecular analysis of the newborn reve