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Article

Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation.

Clinical genetics - 1 Dec 2005

Vincent A L, Watkins W J, Sloan B H, Shelling A N

Abstract excerpt

This case describes the novel coexistence of sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and bilateral type I Duane syndrome in a female infant, with a FOXL2 mutation. Mutational analysis of FOXL2 demonstrated a 30-nucleotide duplication (c.672(-)701dup30) within the polyalanine tract of FOXL2. The association of BPES and Duane syndrome represents a novel phenotype which may suggest a...

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Source

Identifiers

PMID: 16283882
DOI: 10.1111/j.1399-0004.2005.00527.x

Genes

FOXL2

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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Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation.PMID 16283882Read ↗

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Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).Semantic proximity Read ↗

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