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Article

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

Molecular vision - 1 Jan 2008

White Tristan, Lu Tianyi, Metlapally Ravikanth, Katowitz James, Kherani Femida, Wang Tian-Yuan, Tran-Viet Khanh-Nhat, Young Terri L

Abstract excerpt

PURPOSE: Anophthalmia and microphthalmia (A/M) are rare congenital ocular malformations presenting with the absence of eye components or small eyes with or without structural abnormalities. A/M can be isolated or syndromic. The stimulated by retinoic acid gene 6 (STRA6) and Sloan-Kettering viral oncogene homolog (SKI) genes are involved in vitamin A metabolism, and are implicated with A/M developmental...

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Source

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Identifiers

PMID: 19112531
PMCID: PMC2610290

Genes

SKI
STRA6

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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