Article

Identification of novel ATRX mutations in Chinese patients with ATRX syndrome related intellectual disability/developmental delay

2022-06-02

Abstract excerpt

<h4>Background: </h4> Intellectual disability/developmental delay (ID/DD) is a kind of neurodevelopmental disorders of which the genetic etiologies are to be clarified in majority of the patients. The features of ID/DD patients with hemizygous variants in ATRX in China remains unclear due to the rare reports in worldwide. <h4>Methods: </h4> Clinical data of six Chinese pedigrees with hemizygous variants in ATRX an...

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Literature Corpus work: 44db2632-fe11-5e63-a6f6-f9e07a47e27b
DOI: 10.21203/rs.3.rs-1710086/v1

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