×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
CLINVAR
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
CausalMutation
CLINVAR
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
CTD_human
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
Blepharophimosis syndrome (BPES , blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion.7795600 1995
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
11175783 2001
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
In this study, we describe the identification of novel mutations in the FOXL2 gene in BPES types I and II families, in sporadic BPES patients, and in BPES families where the type could not be established.
11468277 2001
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome : differential role of the polyalanine tract in the development of the ovary and the eyelid.
11910558 2002
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.
12400065 2002
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
GENOMICS_ENGLAND
FOXL2 and BPES : mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.12529855 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
FOXL2 and BPES : mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.12529855 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
BEFREE
FOXL2 and BPES : mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.12529855 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.
12630957 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.
12938087 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.
12938087 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
MGD
The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance.
14736745 2004
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
MGD
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.
15056605 2004
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).
15257268 2004
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
Since then, a number of reports have appeared that describe intragenic FOXL2 mutations in BPES patients.
15300845 2004
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
BEFREE
Here, we identified novel microdeletions outside of FOXL2 in cases of sporadic and familial BPES .
15962237 2005
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
16454982 2006
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Mutations in the FOXL2 gene, encoding a forkhead transcription factor, are responsible for both types of BPES .
17089161 2007
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
A novel polyalanine expansion in FOXL2 : the first evidence for a recessive form of the blepharophimosis syndrome (BPES ) associated with ovarian dysfunction.
17089161 2007
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
The elucidation of the impact of FOXL2 mutations on its function will allow a better understanding of the pathogenic mechanisms underlying the BPES phenotype.
18155828 2008
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Mutations of the FOXL2 gene have been shown to cause blepharophimosis syndrome (BPES ), characterized by an eyelid malformation associated with premature ovarian failure or not.
18372316 2008