Severe chorioretinal atrophy in Boucher-Neuhauser syndrome
Author:
Publisher
Elsevier BV
Subject
Ophthalmology,General Medicine
Reference6 articles.
1. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum;Synofzik;Brain,2014
2. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness;Kmoch;Nat Commun,2015
3. Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature;Tarnutzer;J Neurol,2015
4. Chorioretinal changes in a genetically confirmed case of Boucher-Neuhauser syndrome;DeNaro;Retin Cases Brief Rep,2018
5. Ophthalmologic findings of Boucher-Neuhäuser syndrome;Yu;Korean J Ophthalmol,2008
Cited by 6 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. Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders;Brain;2024-05-13
2. Neuropathy target esterase activity predicts retinopathy amongPNPLA6disorders;2023-06-11
3. Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher–Neuhäuser Syndrome;Frontiers in Genetics;2022-02-07
4. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature;Frontiers in Neurology;2022-01-06
5. Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene;Ophthalmic Genetics;2021-03-02
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