Add to ORKGBlepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus. Here, we focus on 92 new intragenic FOXL2 mutations, 34 of which are novel. Specifically, we found 10 nonsense mutations (11%), 13 missense mutations (14%), 40 deletions or insertions leading to a frameshift (43%), and 29 in-frame changes (32%), of which 28 (30%) lead to a polyalanine expansion. This study confirms the existence of two previously described mutational hotspots. Moreover, we gained novel insights in genotype-phenotype correlations, emphasizing the need to interpret genotype-phenotype correlations individually and always in the context of further ...
Mutations of the FOXL2 gene have been shown to cause blepharophimosis syndrome (BPES), characterized...
Mutations in the forkhead transcription factor gene 2 (FOXL2) were recently reported to cause blepha...
Aim The fork-head transcription factor gene (FOXL2) gene has been implicated in Blepharophimosis Pto...
Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead...
Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead...
Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is ...
Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is ...
Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is ...
The FOXL2 gene is one of 10 forkhead genes, the mutations of which lead to human developmental disor...
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharo...
Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES; MIM # 110100) is an autosomal dominant g...
International audienceMutations in FOXL2 gene are responsible for blepharophimosis ptosis epicanthus...
Blepharophimosis Syndrome (BPES) is an autosomal dominant developmental disorder of the eyelids with...
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharo...
Blepharophimosis Syndrome (BPES) is an autosomal dominant developmental disorder of the eyelids with...
Mutations of the FOXL2 gene have been shown to cause blepharophimosis syndrome (BPES), characterized...
Mutations in the forkhead transcription factor gene 2 (FOXL2) were recently reported to cause blepha...
Aim The fork-head transcription factor gene (FOXL2) gene has been implicated in Blepharophimosis Pto...
Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead...
Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead...
Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is ...
Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is ...
Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is ...
The FOXL2 gene is one of 10 forkhead genes, the mutations of which lead to human developmental disor...
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharo...
Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES; MIM # 110100) is an autosomal dominant g...
International audienceMutations in FOXL2 gene are responsible for blepharophimosis ptosis epicanthus...
Blepharophimosis Syndrome (BPES) is an autosomal dominant developmental disorder of the eyelids with...
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharo...
Blepharophimosis Syndrome (BPES) is an autosomal dominant developmental disorder of the eyelids with...
Mutations of the FOXL2 gene have been shown to cause blepharophimosis syndrome (BPES), characterized...
Mutations in the forkhead transcription factor gene 2 (FOXL2) were recently reported to cause blepha...
Aim The fork-head transcription factor gene (FOXL2) gene has been implicated in Blepharophimosis Pto...