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Article

Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature.

Ophthalmic genetics - 1 Sept 2006

Khan Arif O, Alam Syed K, Aldahmesh Mohammed, Rajab Mohammed, Meyer Brian

Abstract excerpt

BACKGROUND: Interstitial deletion of Hsa 3q involves FOXL2, the gene responsible for blepharophimosis-ptosis-telecanthus-epicanthus inversus (BPES). Thought to be due to a contiguous gene syndrome, the recognizable phenotype of 3q interstitial deletion includes BPES facies and has not been associated with other loci. OBJECTIVE: To describe a familial syndrome that resembles the interstitial deletion of 3q...

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Source

Identifiers

PMID: 17050282
DOI: 10.1080/13816810600862501

Genes

FOXL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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