Article

Evaluation of the X-chromosome inactivation patterns in females with Gabriele-de Vries syndrome and expansion of clinical spectrum

2026-02-22

Abstract excerpt

<title>Abstract</title> <p> Gabriele-de Vries syndrome (GDVS) is a syndromic form of intellectual disability caused by pathogenic variants in the <italic>YY1</italic> gene, which encodes a ubiquitously expressed transcription factor that plays a crucial role in the X-chromosome inactivation (XCI) process. Recent studies have implicated <italic>de novo YY1</italic> pathogenic variants in skewed XCI in females...

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Literature Corpus work: 013df402-e30b-5ddc-b61e-399e5cade119
DOI: 10.21203/rs.3.rs-8846661/v1

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