EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis

Multiple osteochondromas (MO), the most common type of benign bone tumor, is an autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony protuberances. In most cases, EXT1 and EXT2, which encode glycosyltransferases involved in the biosynthesis of heparan sulfate, are the...

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Bibliographic Details
Main Authors: Ye Wang, Liangying Zhong, Yan Xu, Lei Ding, Yuanjun Ji, Sacha Schutz, Claude Férec, David N. Cooper, Caixia Xu, Jian-Min Chen, Yanmin Luo
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-12-01
Series:Frontiers in Genetics
Subjects:
EXT1 gene
EXT2 gene
multiple osteochondromas
pathogenic variant
preimplantation genetic testing
prenatal diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.607838/full

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https://www.frontiersin.org/articles/10.3389/fgene.2020.607838/full

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