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
Screening and Identification of Transcription Factors Potentially Regulating Foxl2 Expression in Chlamys farreri Ovary
Sign Up to like & getrecommendations! Published in 2022 at "Biology"
DOI: 10.3390/biology11010113
Abstract: Simple Summary Foxl2 generally presents a sexually dimorphic expression pattern in animal gonads and is highly expressed in the ovary. However, few studies on the transcriptional regulation of Foxl2 have been documented. To understand the… read more here.
Keywords: expression; chlamys farreri; transcription factors; foxl2 ... See more keywords