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...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:The Pan African Medical Journal
المؤلفون الرئيسيون: Akin Usta, Dilay Karademir, Eylem Sen, Selcuk Yazici, Ertan Adali, Erkan Erdem, Meric Karacan
التنسيق: مقال
اللغة:الإنجليزية
منشور في: The Pan African Medical Journal 2017-07-01
الموضوعات:
osteogenesis ιmprefecta
skeletal dysplasia
malecular analysis
col1a2 gene
الوصول للمادة أونلاين: https://www.panafrican-med-journal.com/content/article/27/198/pdf/198.pdf

الانترنت

https://www.panafrican-med-journal.com/content/article/27/198/pdf/198.pdf

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