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Identification of a Novel EXT Mutation in A Kindred With Hereditary Multiple Exostoses Using Whole-Exome Sequencing and Overview of Mutation Spectrum

2021-09-16

Abstract excerpt

<h4>Background: </h4> Hereditary Multiple Osteochondromas(HMO) is a rare genetic musculoskeletal disorder characterized by multiple osteochondromas that form near to the growth plates of many bones. Loss-of-function mutations in EXT1 or EXT2 that encode glycosyltrasferases are the causal mutations for most HMO patients. <h4>Methods: </h4>: After collecting the family history and clinical information, we used Whole...

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Literature Corpus work: 752c3036-4852-5107-a335-9b6d82a70e74
DOI: 10.21203/rs.3.rs-770260/v1

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