Associated Papers
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Jordan P et al.
Clinical Genetics, 2024
Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations.
Meng T et al.
Frontiers in Endocrinology, 2022
Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.
Shen J et al.
Journal of Assisted Reproduction and Genetics, 2021
The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.
Méjécase C et al.
Genes, 2021
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
Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome.
Yang L et al.
Molecular Medicine Reports, 2017
Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients.
Kaur I et al.
The British Journal of Ophthalmology, 2011
FOXL2 mutations and genomic rearrangements in BPES.
Beysen D et al.
Human Mutation, 2009
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Wang J et al.
Molecular Vision, 2007
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