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Article

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

American journal of medical genetics. Part A - 1 Dec 2009

Schneider Adele, Bardakjian Tanya, Reis Linda M, Tyler Rebecca C, Semina Elena V

Abstract excerpt

SOX2 represents a High Mobility Group domain containing transcription factor that is essential for normal development in vertebrates. Mutations in SOX2 are known to result in a spectrum of severe ocular phenotypes in humans, also typically associated with other systemic defects. Ocular phenotypes include anophthalmia/microphthalmia (A/M), optic nerve hypoplasia, ocular coloboma and other eye anomalies. We...

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Source

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Identifiers

PMID: 19921648
DOI: 10.1002/ajmg.a.33098
PMCID: PMC2787970

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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