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Article

Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.

American journal of medical genetics. Part A - 15 Sept 2006

Zenteno Juan Carlos, Perez-Cano Hector J, Aguinaga Monica

Abstract excerpt

The clinical combination of anophthalmia/microphthalmia and esophageal atresia was first recognized in 1988 as a distinct variable multi-system malformation syndrome and since then at least 17 cases of the disease have been described, all of them sporadic in occurrence. We report a heterozygous S...

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Source

Identifiers

PMID: 16892407
DOI: 10.1002/ajmg.a.31384

Genes

SOX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16892407-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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