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