Article

New heritable ATRX mutation identified by whole exome sequencing and review

2020-02-06

Abstract excerpt

<title>Abstract</title> <p>Background ATRX gene encodes a member of the SWI2/SNF2 family of proteins that may act as a transcriptional factor and plays a significant role in the epigenetic regulation of gene expression. The mutations in the ATRX gene have been shown to cause two types of disorders: inherited mutations lead to alpha thalassemia X-linked mental retardation (ATR-X) syndrome and acquired somatic mut...

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Literature Corpus work: beae2b17-effa-5c40-81f0-97a0ce519ee9
DOI: 10.21203/rs.2.22761/v1

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