Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a rare heritable skeletal disorder which is mainly caused by defected type I collagen. Autosomal recessive OI (AR-OI) is caused by mutations of genes that are responsible for type I collagen modification and folding, and is often associated with more severe phenotypes...

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Bibliographic Details
Main Authors: Shan Li, Yixuan Cao, Han Wang, Lulu Li, Xiuzhi Ren, Huan Mi, Yanzhou Wang, Yun Guan, Feiyue Zhao, Bin Mao, Tao Yang, Yi You, Xin Guan, Yujiao Yang, Xue Zhang, Xiuli Zhao
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Genetics
Subjects:
autosomal recessive osteogenesis imperfecta
mutation spectrum
phenotype
WNT1
Chinese cohort
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00984/full

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https://www.frontiersin.org/article/10.3389/fgene.2020.00984/full

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