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Article

Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders.

European journal of human genetics : EJHG - 1 Jul 2024

Lu Xiaona, Ng Kim, Pinto E Vairo Filippo, Collins James, Cohn Ronald, Riley Kacie, Agre Katherine, Gavrilova Ralitza, Klee Eric W, Rosenfeld Jill A, Jiang Yong-Hui

Abstract excerpt

Numerous large scale genomic studies have uncovered rare but recurrent pathogenetic variants in a significant number of genes encoding epigenetic machinery in cases with neurodevelopmental disorders (NDD) especially autism spectrum disorder (ASD). These findings provide strong support for the functional importance of epigenetic regulators in neurodevelopment. After the clinical genomics evaluation of the patients...

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Source

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Identifiers

PMID: 38702431
DOI: 10.1038/s41431-024-01576-0
PMCID: PMC11219747

Genes

MSL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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