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Article

Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function.

Neuropediatrics - 1 Oct 2013

Shoukier Moneef, Fuchs Sigrid, Schwaibold Eva, Lingen Michael, Gärtner Jutta, Brockmann Knut, Zirn Birgit

Abstract excerpt

Terminal deletions of chromosome 3p26.3 confined to the CHL1 gene have previously been described in children with intellectual disability and epilepsy. Here, we report for the first time, a 3p26.3 duplication including only the CHL1 gene in an intellectually disabled girl with epilepsy. The penetrance of both deletions and duplications in 3p26.3 is reduced because all chromosomal imbalances were inherited from...

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Source

Identifiers

PMID: 23436495
DOI: 10.1055/s-0033-1333874

Genes

CHL1

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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