Article

Whole-exome sequencing identified a novel mutation of SLC20A2 (c.C1849T) in a Chinese family with hereditary multiple exostoses

2020-01-30

Abstract excerpt

<title>Abstract</title> <p>Background: Although the main causative genes for hereditary multiple exostoses (HME) are EXT-1 and EXT-2, there are still many HME patients without EXT-1 and EXT-2 mutations. This study aimed to identify novel candidate genes for the development of HME in patients without EXT-1 and EXT-2 mutations. <h4>Methods:</h4> Whole-exome sequencing was performed in a typical Chinese HME family w...

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Literature Corpus work: aa979cdd-8c01-5cf5-838c-1455e699ab0c
DOI: 10.21203/rs.2.22277/v1

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