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Article

Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism.

Cytogenetic and genome research - 1 Jan 2016

Kaufman Carolyn S, Genovese Ann, Butler Merlin G

Abstract excerpt

Deletions of different regions of chromosome 22q11 have been extensively characterized in the literature, with a recent review outlining common deletions with a standardized system proposed for classification and nomenclature. The genotype-phenotype relationships have not been sufficiently elucidated for these deletions, and it remains unclear which specific genes play the dominant roles in producing associated...

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Identifiers

PMID: 27880953
DOI: 10.1159/000452815
PMCID: PMC7343397

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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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