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Article

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome.

Journal of genetics - 1 Aug 2007

Nallathambi Jeyabalan, Neethirajan Guruswamy, Usha Kim, Jitendra Jethani, De Baere Elfride, Sundaresan Periasamy

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Identifiers

PMID: 17968144
DOI: 10.1007/s12041-007-0021-z

Genes

FOXL2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome.PMID 17968144Read ↗

Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversusSemantic proximity Read ↗

Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutationsSemantic proximity Read ↗

Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation.Semantic proximity Read ↗

Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly.Semantic proximity Read ↗

A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome.Semantic proximity Read ↗

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.Semantic proximity Read ↗

A Novel FOXL2 Missense Mutation, c.1068G>C, In Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type IISemantic proximity Read ↗

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.Semantic proximity Read ↗

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).Semantic proximity Read ↗

Blepharophimosis-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

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