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Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome
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FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
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Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis
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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
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Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation