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Article

Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)

1 Apr 2000

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PMID: 10777667
DOI: 10.1006/geno.2000.6157

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)PMID 10777667Read ↗

Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]Semantic proximity Read ↗

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

[A pedigree with blepharophimosis-ptosis-epicanthus inversus syndrome].Semantic proximity Read ↗

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype.Semantic proximity Read ↗

Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population.Semantic proximity Read ↗

[Phenotypic and genetic analysis of a child with blepharophimosis, ptosis, epicanthus inverses syndrome and tetralogy of Fallot].Semantic proximity Read ↗

Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype.Semantic proximity Read ↗

Tetrasomy 21pter-q22.11: molecular, cytogenetic, and clinical findings.Semantic proximity Read ↗

Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.Semantic proximity Read ↗

Molecular cytogenetic analysis of a Xp21.3-pter deletion in a family with normal and short stature.Semantic proximity Read ↗

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

[Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome].Semantic proximity Read ↗

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