Article
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.
BMC medical genetics - 1 Sept 2015
Xue Min, Zheng Jie, Zhou Qing, Hejtmancik J Fielding, Wang Yuan, Li Shouling
Abstract excerpt
BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease. Mutations in the forkhead box L2 (FOXL2) gene cause two types of BPES distinguished by the presence (type I) and absence (type II) of premature ovarian failure (POF). The purpose of this study was to identify possible mutations in FOXL2 in two Chinese families with BPES. METHODS: Two large autosomal...
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