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Article

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

The Pan African medical journal - 1 Jan 2017

Usta Akin, Karademir Dilay, Sen Eylem, Yazici Selcuk, Adali Ertan, Erdem Erkan, Karacan Meric

Abstract excerpt

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. Molecular analysis of the newborn revealed a novel mutation at position c.560 (c.560 G > T) of the exon 12 in the...

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Identifiers

PMID: 28904723
DOI: 10.11604/pamj.2017.27.198.12295
PMCID: PMC5579436

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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