FOXL2
Pathology
germline mutations in
- blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (12529855) (polyalanine repeat expansion)
- premature ovarian failure (MIM.608996)
See also
- FOXLs
polyalanine repeat expansions