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Article

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

Orphanet journal of rare diseases - 25 Feb 2021

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

Abstract excerpt

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 2 (EXT2). The genetic defects have not been studied in the Saudi patients. AIM OF STUDY: We investigated mutation...

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DNA Mutational Analysis
Exons
Exostoses, Multiple Hereditary
Exostosin 1
Exostosin 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

N-Acetylglucosaminyltransferases

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PMID: 33632255
DOI: 10.1186/s13023-021-01738-z
PMCID: PMC7905910

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