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

FOXL2 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 ty...

Source: BMC Medical Genetics - July 31, 2019 Category: Genetics & Stem Cells Authors: Barbara Grzechoci ńska, Damian Warzecha, Maria Wypchło, Rafal Ploski and Mirosław Wielgoś Tags: Case report Source Type: research