A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.
Hum Genet. 2007 Mar;121(1):107-12. doi: 10.1007/s00439-006-0276-0. Epub 2006 Nov 7.
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PMID: 17089161