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Article

Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.

Neurogenetics - 1 Jan 2020

Smol Thomas, Thuillier Caroline, Boudry-Labis Elise, Dieux-Coeslier Anne, Duban-Bedu Bénédicte, Caumes Roseline, Bouquillon Sonia, Manouvrier-Hanu Sylvie, Roche-Lestienne Catherine, Ghoumid Jamal

Abstract excerpt

Microdeletions encompassing 14q11.2 locus, involving SUPT16H and CHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. Variations leading to CHD8 haploinsufficiency or loss of function were also shown to lead to a similar phenotype. Recently, a 14q11.2 microduplication syndrome, encompassing CHD8 and SUPT16H, has been described, highlighting the...

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PMID: 31823155
DOI: 10.1007/s10048-019-00599-w

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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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