Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta

Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta

ObjectiveOsteogenesis imperfecta (OI) is a rare genetic disorder. Clinical severity is heterogeneous. The purpose of this study was to investigate the genetic characteristics of a fetus with OI by whole exome sequencing (WES) and identify the cause of the disease.MethodsIn this study, a fetus with o...

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Detaylı Bibliyografya
Asıl Yazarlar: Qiuyan Mai, Ruining Han, Yinlong Chen, Ke Shen, Shimin Wang, Qingliang Zheng
Materyal Türü: Makale
Dil:English
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2023-11-01
Seri Bilgileri:Frontiers in Endocrinology
Konular:
osteogenesis imperfecta
COL1A1
de novo
whole exome sequencing
type I collagen
Online Erişim:https://www.frontiersin.org/articles/10.3389/fendo.2023.1267252/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2023.1267252/full

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