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Article

Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.

European journal of human genetics : EJHG - 1 May 2023

St John Miya, van Reyk Olivia, Koolen David A, de Vries Bert B A, Amor David J, Morgan Angela T

Abstract excerpt

Speech and language impairment is core in Koolen-de Vries syndrome (KdVS), yet only one study has examined this empirically. Here we define speech, language, and functional/adaptive behaviour in KdVS; while deeply characterising the medical/neurodevelopmental phenotype in the largest cohort to date. Speech, language, literacy, and social skills were assessed using standardised measures, alongside an in-depth...

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Identifiers

PMID: 36529818
DOI: 10.1038/s41431-022-01230-7
PMCID: PMC10172335

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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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