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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2020-09-01
coleção:	Frontiers in Genetics
Assuntos:	autosomal recessive osteogenesis imperfecta mutation spectrum phenotype WNT1 Chinese cohort
Acesso em linha:	https://www.frontiersin.org/article/10.3389/fgene.2020.00984/full
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