Novel FOXL2 mutations cause blepharophimosis‐ptosis‐epicanthus inversus syndrome with premature ovarian insufficiency
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.366
Abstract: Blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) is a malformation of the eyelids. Forkhead Box L2 (FOXL2) is the only gene known to be associated with BPES. read more here.
Keywords: inversus syndrome; blepharophimosis ptosis; ptosis epicanthus; epicanthus inversus ... See more keywords
Blepharophimosis–ptosis–epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000216
Abstract: Blepharophimosis–ptosis–epicanthus inversus syndrome [BPES (OMIM#110100)] is a rare autosomal dominant condition characterized by the following four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus (Oley and Baraitser, 1988). Two types of BPES have been recognized… read more here.
Keywords: inversus syndrome; blepharophimosis ptosis; ptosis epicanthus; epicanthus inversus ... See more keywords
Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genetics"
DOI: 10.1186/s12881-019-0865-0
Abstract: BackgroundFOXL2 gene mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and may be associated with premature ovarian insufficiency (POI). Two types of BPES were described in the literature. BPES type 2 is a simple association of inherited… read more here.
Keywords: leu75phe; foxl2; case; blepharophimosis ptosis ... See more keywords
Identification and functional analyses of a novel FOXL2 pathogenic variant causing blepharophimosis, ptosis, and epicanthus inversus syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2023.05.02
Abstract: AIM To discover the molecular pathogenic basis of the blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and to predict the clinical subtype according to in vitro experiments, which is significant to the prognosis. METHODS A… read more here.
Keywords: blepharophimosis ptosis; inversus syndrome; epicanthus inversus; pathogenic variant ... See more keywords
The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12030364
Abstract: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. It shows autosomal dominant inheritance but can also occur sporadically. Depending on the… read more here.
Keywords: inversus syndrome; blepharophimosis ptosis; ptosis epicanthus; epicanthus inversus ... See more keywords