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

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 glycosyltransferase...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Al-Zayed, Zayed, Al-Rijjal, Roua A., Al-Ghofaili, Lamya, BinEssa, Huda A., Pant, Rajeev, Alrabiah, Anwar, Al-Hussainan, Thamer, Zou, Minjing, Meyer, Brian F., Shi, Yufei
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2021
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7905910/
https://ncbi.nlm.nih.gov/pubmed/33632255
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01738-z
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