Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference17 articles.
1. IRF2BPL Mutation Causes Nigrostriatal Degeneration Presenting with Dystonia, Spasticity and Keratoconus;Prilop,2020
2. The clinical syndrome of dystonia with anarthria/aphonia;Ganos;Park. Relat. Disord.,2016
3. IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures;Ganos;Park. Relat. Disord.,2019
4. Update on the keratoconus genetics;Nielsen;Acta Ophthalmol.,2013
5. Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers;Lisková;Arch. Ophthalmol.,2010
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. De novo variants of IRF2BPL result in developmental epileptic disorder;Orphanet Journal of Rare Diseases;2024-03-13
2. Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants;Journal of Central Nervous System Disease;2023-06-13
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