A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family

Abstract Background Osteogenesis imperfecta (OI), a rare autosomal inheritable disorder characterized by bone fragility and skeletal deformity, is caused by pathogenic variants in genes impairing the synthesis and processing of extracellular matrix protein collagen type I. With the use of next‐gener...

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Detalhes bibliográficos

Principais autores:	Yaxin Han, Dongming Wang, Jinli Guo, Qiuhong Xiong, Ping Li, Yong‐An Zhou, Bin Zhao
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2020-09-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	c.3814+1G>T COL1A1 novel splicing pathogenic variant osteogenesis imperfecta whole‐exome sequencing
Acesso em linha:	https://doi.org/10.1002/mgg3.1366
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