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Article

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

American journal of medical genetics. Part A - 1 Nov 2008

Schneider Adele, Bardakjian Tanya M, Zhou Jie, Hughes Nkecha, Keep Rosanne, Dorsainville Darnelle, Kherani Femida, Katowitz James, Schimmenti Lisa A, Hummel Marybeth, Fitzpatrick David R, Young Terri L

Abstract excerpt

The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10-15% of individuals with bilateral anophthalmia. Extra-ocular anomalies are common. The majority of SOX2 mutations identified appear to arise de novo in probands ascertained through the presence of anophthalmia or microphthalmia. In this report, we describe two sisters with bilateral...

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Source

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Identifiers

PMID: 18831064
DOI: 10.1002/ajmg.a.32384
PMCID: PMC3693575

Genes

SOX2

Variants

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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