Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family

Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family

Abstract Background Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage‐covered tumors on the external surfaces of bones (osteochondromas). Most of HME cases result from heterozygous loss‐of‐function mutations in EXT1...

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Bibliographic Details
Main Authors: Jianwei Li, Zhiqiang Wang, Yaxin Han, Chengfang Jin, Dalin Cheng, Yong‐An Zhou, Junping Zhen
Format: Article
Language:English
Published: Wiley 2022-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
c.1056 + 1G > T
EXT1
hereditary multiple exostosis
splicing variant
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1878

Internet

https://doi.org/10.1002/mgg3.1878

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