A patient with cerebellar ataxia, hypogonadotropic hypogonadism and vitelliform macular dystrophy: Boucher-Neuhaeuser syndrome
Author:
Publisher
Societas Neurologica Japonica
Subject
Neurology (clinical)
Reference15 articles.
1. 1) Holmes G. A form of familial degeneration of the cerebellum. Brain 1907; 30: 466-489.
2. 2) Boucher BJ, Gibberd FB. Familial ataxia, hypogonadism and retinal degeneration. Acta Neurol Scand 1969; 45: 507-510.
3. A New Family of Boucher-Neuhauuser Syndrome: Coexistence of Holmes Type Cerebellar Atrophy, Hypogonadotropic Hypogonadism and Retinochoroidar Degeneration: Case Reports and Review of Literature.
4. 5) Rump R, Hamel BC, Pinckers AJ, et al. Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome. J med Genet 1997; 34: 767-771.
Cited by 3 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. 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
2. Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia;Ophthalmic Genetics;2019-05-04
3. Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome;Journal of Human Genetics;2015-01-29
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