Article
FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report.
Human reproduction (Oxford, England) - 1 Jan 2010
Méduri Géri, Bachelot Anne, Duflos Catherine, Bständig Bettina, Poirot Catherine, Genestie Catherine, Veitia Reiner, De Baere Elfride, Touraine Philippe
Abstract excerpt
FOXL2 mutations cause the autosomal dominant Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) that may be associated with premature ovarian failure (POF). However, little is known about the molecular mechanisms of FOXL2 actions in the human ovary. We conducted an extensive clinical, hormonal and ovarian histological study in two patients carrying a FOXL2 mutation associated with the typical eyelid...
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