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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
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Refined genetic and physical mapping of BPES type II
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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): report of a large family
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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical subtypes and their genotype
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Fibromuscular dysplasia of the arteries: an arterial occlusive disease with severe neurological complications at young age
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Osteoporosis-pseudoglioma syndrome
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Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families