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...

全面介紹

書目詳細資料

發表在:	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
格式:	Artigo
語言:	Inglês
出版:	Elsevier 2003
主題:	Report
在線閱讀:	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
標簽:	添加標簽 沒有標簽, 成為第一個標記此記錄!