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Article

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.

Human molecular genetics - 1 Mar 2011

Shaikh Tamim H, Haldeman-Englert Chad, Geiger Elizabeth A, Ponting Chris P, Webber Caleb

Abstract excerpt

Rare copy number variations (CNVs) are a recognized cause of common human disease. Predicting the genetic element(s) within a small CNV whose copy number loss or gain underlies a specific phenotype might be achieved reasonably rapidly for single patients. Identifying the biological processes that...

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Identifiers

PMID: 21147756
DOI: 10.1093/hmg/ddq527
PMCID: PMC3033180

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21147756-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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