FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

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 FO...

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Vydáno v:	Am J Hum Genet
Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2003
Témata:	Report
On-line přístup:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC379240/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12529855/ https://ncbi.nlm.nih.govhttps://doi.org/10.1086/346118
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