Case Report: A Novel COL1A1 Missense Mutation Associated With Dentineogenesis Imperfecta Type I

Background: Osteogenesis imperfecta (OI) is a clinical and genetic disorder that results in bone fragility, blue sclerae and dentineogenesis imperfecta (DGI), which is mainly caused by a mutation in the COL1A1 or COL1A2 genes, which encode type I procollagen.Case Report: A missense mutation (c.1463G...

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Bibliographic Details
Main Authors: Yuting Zeng, Yuhua Pan, Jiayao Mo, Zhiting Ling, Lifang Jiang, Fu Xiong, Wenjuan Yan
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Genetics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.699278/full