Ontology highlight
ABSTRACT:
SUBMITTER: Tan H
PROVIDER: S-EPMC4785579 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Tan Hu H Yang Pu P Li Haoxian H Pan Qian Q Liang Desheng D Wu Lingqian L
Human genome variation 20150319
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease characterized by a narrowed horizontal palpehral aperture, ptosis, epicanthus inversus and telecanthus with or without premature ovarian failure. Mutations in the forkhead transcription factor 2 (FOXL2) have been shown to be responsible for BPES. We performed direct sequencing of the FOXL2 gene for molecular investigation of a Chinese family with BPES. A novel duplication mutation (c.858_86 ...[more]