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 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...

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Detalles Bibliográficos
Autores principales: Usta, Akin, Karademir, Dilay, Sen, Eylem, Yazici, Selcuk, Adali, Ertan, Erdem, Erkan, Karacan, Meric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5579436/
https://www.ncbi.nlm.nih.gov/pubmed/28904723
http://dx.doi.org/10.11604/pamj.2017.27.198.12295

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5579436/
https://www.ncbi.nlm.nih.gov/pubmed/28904723
http://dx.doi.org/10.11604/pamj.2017.27.198.12295

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