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Article

SOX2 anophthalmia syndrome and dental anomalies.

American journal of medical genetics. Part A - 1 Nov 2015

Chacon-Camacho Oscar Francisco, Fuerte-Flores Bertha Irene, Ricardez-Marcial Edgar F, Zenteno Juan Carlos

Abstract excerpt

SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia. In this work, a patient with the SOX2 anophthalmia syndrome and exhibiting a novel dental anomaly is described. SOX2 genotyping in this patient...

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Source

Identifiers

PMID: 26250054
DOI: 10.1002/ajmg.a.37277

Genes

SOX2

Provenance

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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