Two Families with Blepharophimosis/Ptosis/Epicanthus Inversus Syndrome Have Mutations in the Putative Forkhead Transcription Factor FOXL2
Author:
Affiliation:
1. The Medical Genetics Unit, St. George's Hospital Medical School, London, SW17 ORE, UK.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/109065701753617499
Reference19 articles.
1. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23
2. Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the gene
3. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
4. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
5. Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome
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1. Gonad differentiation toward ovary;Annales d'Endocrinologie;2020-06
2. Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency;Molecular Genetics & Genomic Medicine;2018-01-29
3. Clinical presentation and management of congenital ptosis;Clinical Ophthalmology;2017-02
4. A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I;Journal of Pediatric Endocrinology and Metabolism;2014-01-01
5. Strabismus;Emery and Rimoin's Principles and Practice of Medical Genetics;2013
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