Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus

Title
Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus
Authors
Keywords
Blepharophimosis-ptosis-epicanthus inversus, BPES, FOXL2, Premature ovarian failure (POF), Ptosis, Blepharophimosis, Telecanthus, Epicanthus, Poly-alanine-tract
Journal
GENE
Volume 706, Issue -, Pages 62-68
Publisher
Elsevier BV
Online
2019-04-29
DOI
10.1016/j.gene.2019.04.073

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