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Article

Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Journal of pediatric ophthalmology and strabismus - 1 Jan 2000

Costa T, Pashby R, Huggins M, Teshima I E

Abstract excerpt

BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant condition mapped to chromosome 3q23. There are several reports of chromosomal abnormalities involving this region with a resultant phenotype that includes BPES. METHOD: We reassessed two unrelated boys ages 3 and 5 with BPES and associated nonocular abnormalities. Karyotype, which had been previously reported as...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9782438
DOI: 10.3928/0191-3913-19980901-06

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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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