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Article

Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome.

Nucleus (Austin, Tex.) - 1 Jan 2000

Zeitz Michael J, Lerner Paula P, Ay Ferhat, Van Nostrand Eric, Heidmann Julia D, Noble William S, Hoffman Andrew R

Abstract excerpt

22q11.2 deletion syndrome (22q11DS) results from a hemizygous microdeletion on chromosome 22 and is characterized by extensive phenotypic variability. Penetrance of signs, including congenital heart, craniofacial, and neurobehavioral abnormalities, varies widely and is not well correlated with genotype. The three-dimensional structure of the genome may help explain some of this variability. The physical...

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Source

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Identifiers

PMID: 24448439
DOI: 10.4161/nucl.27364
PMCID: PMC3925693

Genes

COMT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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