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A Novel FOXL2 Missense Mutation, c.1068G>C, In Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type II

2019-10-24

Abstract excerpt

<h4>Background: </h4> Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a hereditary disease caused by a mutation in the forkhead box L2 ( FOXL2 ) gene. Female patients suffering from premature ovarian failure (POF) were classified as type I, and others were classified as type II. We aimed to clarify a novel FOXL2 indel mutation in Chinese families and to predict the POF risk in the affected patient.M...

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Literature Corpus work
0739fb8f-aced-5e15-88a8-808b9265d25f
DOI
10.21203/rs.2.16428/v1
Open publication

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