Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses

Abstract Background Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin glycosyltransferase 1 (EXT1) and exostosin glycosyltran...

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Bibliographic Details
Main Authors: Zayed Al-Zayed, Roua A. Al-Rijjal, Lamya Al-Ghofaili, Huda A. BinEssa, Rajeev Pant, Anwar Alrabiah, Thamer Al-Hussainan, Minjing Zou, Brian F. Meyer, Yufei Shi
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
EXT1
EXT12
Mutation
Exostoses
Osteochondromas
Online Access:https://doi.org/10.1186/s13023-021-01738-z

Internet

https://doi.org/10.1186/s13023-021-01738-z

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