Article
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
American journal of human genetics - 1 Feb 2003
De Baere Elfride, Beysen Diane, Oley Christine, Lorenz Birgit, Cocquet Julie, De Sutter Paul, Devriendt Koen, Dixon Michael, Fellous Marc, Fryns Jean-Pierre, Garza Arturo, Jonsrud Christoffer, Koivisto Pasi A, Krause Amanda, Leroy Bart P, Meire Françoise, Plomp Astrid, Van Maldergem Lionel, De Paepe Anne, Veitia Reiner, Messiaen Ludwine
Abstract excerpt
Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in FOXL2, a putative forkhead transcription factor gene. We previously reported 22 FOXL2 mutations and suggested a preliminary genotype-phenotype correlation. Here, we describe 21 new FOXL2 mutations...
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