Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family

Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge

(2022) Omar Nabih et al.   International Journal of Surgery Case Reports

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome

(2021) Cécile Méjécase et al.   Genes

Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

(2021) Wei-Ning Rong et al.   International Journal of Ophthalmology

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

(2019) David J. Bunyan et al.   European Journal of Medical Genetics

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

(2018) Leslie G Biesecker et al.   GENETICS IN MEDICINE

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Updated recommendation for the benign stand-alone ACMG/AMP criterion

(2018) Rajarshi Ghosh et al.   HUMAN MUTATION

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations inKAT6B

(2014) Hung-Chun Yu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

(2014) Reena Gulati et al.   European Journal of Medical Genetics

FOXL2 Impairment in Human Disease

(2012) Hannah Verdin et al.   Hormone Research in Paediatrics

The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients

(2012) J. Fan et al.   HUMAN REPRODUCTION

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation - a family study

(2009) F Laccone et al.   CLINICAL GENETICS

The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles

(2008) Bérénice A. Benayoun et al.   HUMAN MOLECULAR GENETICS

FOXL2mutations and genomic rearrangements in BPES

(2008) Diane Beysen et al.   HUMAN MUTATION