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Article

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.

European journal of medical genetics - 1 Jan 2023

Rieger Melissa, Moutton Sébastien, Verheyen Sarah, Steindl Katharina, Popp Bernt, Leheup Bruno, Bonnet Céline, Oneda Beatrice, Rauch Anita, Reis André, Krumbiegel Mandy, Hüffmeier Ulrike

Abstract excerpt

Only few copy number variants at chromosome 19p13.11 have been reported, thus associated clinical information is scarce. Proximal to these copy number losses, we now identified deletions in five unrelated individuals with neurodevelopmental disorders. They presented with psychomotor delay as well as behavioral and sleeping disorders, while complex cardiovascular, skeletal, and various other malformations were...

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Identifiers

PMID: 36379434
DOI: 10.1016/j.ejmg.2022.104669

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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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