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

Clinical dysmorphology - 1 Jul 2008

Croft Marion S, Turnpenny Peter D

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18541966
DOI: 10.1097/MCD.0b013e3282f4a984

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Related research

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Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype.PMID 18541966Read ↗

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

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

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

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

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

Chromosome 3q22.2-q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, Pierre Robin Sequence, and Recurrent Infections.Semantic proximity Read ↗

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

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