Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta

Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta

Background and objectivesOsteogenesis imperfecta (OI) is a rare disorder of abnormal production or modification of type I collagen, which is caused by mutations in COL1A1, COL1A2 or other genes. We investigate the cardiac abnormalities and its correlation with pathogenic mutations in OI children.Met...

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Bibliographic Details
Main Authors: Dichen Zhao, Yongtai Liu, Jidong Liu, Jing Hu, Qian Zhang, Ou Wang, Yan Jiang, Weibo Xia, Xiaoping Xing, Mei Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Endocrinology
Subjects:
osteogenesis imperfecta
cardiovascular abnormalities
gene mutation
type I collagen
echocardiography
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.1004946/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2022.1004946/full

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