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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Detalhes bibliográficos
Principais autores: 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
Formato: Artigo
Idioma:English
Publicado em: BMC 2021-02-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
EXT1
EXT12
Mutation
Exostoses
Osteochondromas
Acesso em linha:https://doi.org/10.1186/s13023-021-01738-z

Internet

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

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