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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Detalhes bibliográficos

Publicado no:	Am J Hum Genet
Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2003
Assuntos:	Report
Acesso em linha:	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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