Article
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.
Human mutation - 1 May 2010
D'haene B, Nevado J, Pugeat M, Pierquin G, Lowry R B, Reardon W, Delicado A, García-Miñaur S, Palomares M, Courtens W, Stefanova M, Wallace S, Watkins W, Shelling A N, Wieczorek D, Veitia R A, De Paepe A, Lapunzina P, De Baere E
Abstract excerpt
Blepharophimosis Syndrome (BPES) is an autosomal dominant developmental disorder of the eyelids with or without ovarian dysfunction caused by FOXL2 mutations. Overall, FOXL2deletions represent 12% of all genetic defects in BPES. Here, we have identified and characterized 16 new and one known FOXL2 deletion combining multiplex ligation-dependent probe amplification (MLPA), custom-made quantitative PCR (qPCR)...
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