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Article

Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly.

European journal of medical genetics - 1 Nov 2012

Luo Hong, Xie Li, Wang Shou-Zheng, Chen Jin-Lan, Huang Can, Wang Jian, Yang Jin-Fu, Zhang Wei-Zhi, Yang Yi-Feng, Tan Zhi-Ping

Abstract excerpt

Interstitial duplications of 8q12 encompassing CHD7 have recently been described as a new microduplication syndrome. Three 8q12 duplications have been reported with shared recognizable phenotype: Duane anomaly, developmental delay and dysmorphic facial features. We identified a 2.7 Mb duplication...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22902603
DOI: 10.1016/j.ejmg.2012.07.006

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22902603-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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