A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX

A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX

Background: Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility. PPIB pathogenic variants cause a perinatal lethal form of OI type IX. A limited number of pathogenic variants have been reported so far worldwide.Methods: We identified a rare pedigree whose...

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Bibliographic Details
Main Authors: Wenting Zhu, Kai Yan, Xijing Chen, Wei Zhao, Yiqing Wu, Huanna Tang, Ming Chen, Jian Wu, Pengpeng Wang, Runju Zhang, Yiping Shen, Dan Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Genetics
Subjects:
osteogenesis imperfecta type IX
PPIB gene
founder mutation
pathogenic variant
Chinese
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.717294/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.717294/full

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