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Article

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.

Journal of neurology - 1 May 2024

Sorrentino Ugo, Boesch Sylvia, Doummar Diane, Ravelli Claudia, Serranova Tereza, Indelicato Elisabetta, Winkelmann Juliane, Burglen Lydie, Jech Robert, Zech Michael

Abstract excerpt

BACKGROUND: Heterozygous loss-of-function variants in CHD8 have been associated with a syndromic neurodevelopmental-disease spectrum, collectively referred to as CHD8-related neurodevelopmental disorders. Several different clinical manifestations, affecting neurodevelopmental and systemic domains, have been described, presenting with highly variable expressivity. Some expressions are well established and comprise...

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Source

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Identifiers

PMID: 38441608
DOI: 10.1007/s00415-024-12271-x
PMCID: PMC11055771

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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