FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference14 articles.
1. Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2;Bell;Genet Test,2001
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3. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome;Crisponi;Nat Genet,2001
4. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation;De Baere;Hum Mol Genet,2001
5. An association among blepharophimosis, resistant ovary syndrome, and true premature menopause;Fraser;Fertil Steril,1988
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1. Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome;Frontiers in Genetics;2024-02-12
2. The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome;Genes;2021-03-04
3. A novel FOXL2 mutation in two infertile patients with blepharophimosis–ptosis–epicanthus inversus syndrome;Journal of Assisted Reproduction and Genetics;2019-12-10
4. Testis Development;Endocrine Reviews;2018-12-26
5. Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome;Atlas of Genetic Diagnosis and Counseling;2017
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