Associated Papers
Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review.
Dong Y et al.
American Journal of Medical Genetics. Part A, 2026
Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.
Lin ZB et al.
Bmc Ophthalmology, 2023
Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Wang Y et al.
Molecular Vision, 2022
The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.
Méjécase C et al.
Genes, 2021
Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.
Castets S et al.
Hormone Research in Paediatrics, 2020
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 mutations.
Bunyan DJ et al.
European Journal of Medical Genetics, 2019
FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES).
Fan JY et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2011
FOXL2 mutations and genomic rearrangements in BPES.
Beysen D et al.
Human Mutation, 2009
The transcription factor FOXL2 in ovarian function and dysfunction.
De Baere E et al.
Folia Histochemica Et Cytobiologica, 2009
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