Article
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome.
Menopause (New York, N.Y.) - 1 Nov 2015
Settas Nikolaos, Anapliotou Margarita, Kanavakis Emmanuel, Fryssira Helen, Sofocleous Christalena, Dacou-Voutetakis Catherine, Chrousos George P, Voutetakis Antonis
Abstract excerpt
OBJECTIVE: This study aims to search for mutations in relevant genes in a woman with primary ovarian insufficiency (POI) and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: This study reports on the case of a woman with POI, BPES, and autoimmune endocrine disorder. Bidirectional sequencing of the coding regions and intron/exon boundaries of FOXL2 and BMP15 genes and hormonal assays for the...
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