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) type IV. seen in a female fetus with incurved femurs at 18 weeks of gestation. https://www.jalyttlers.shop/product-category/sugar-bowl/
Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G T; p.Gly187Val) in the COL1A2 gene
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