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Article

Novel clinical and genetic insight into CXorf56-associated intellectual disability.

European journal of human genetics : EJHG - 1 Mar 2020

Rocha Maria Eugenia, Silveira Tainá Regina Damaceno, Sasaki Erina, Sás Daíse Moreno, Lourenço Charles Marques, Kandaswamy Krishna K, Beetz Christian, Rolfs Arndt, Bauer Peter, Reardon Willie, Bertoli-Avella Aida M

Abstract excerpt

Intellectual disability (ID) is one of most frequent reasons for genetic consultation. The complex molecular anatomy of ID ranges from complete chromosomal imbalances to single nucleotide variant changes occurring de novo, with thousands of genes identified. This extreme genetic heterogeneity challenges the molecular diagnosis, which mostly requires a genomic approach. CXorf56 is largely uncharacterized and was...

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Identifiers

PMID: 31822863
DOI: 10.1038/s41431-019-0558-3
PMCID: PMC7028711

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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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