Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference22 articles.
1. PALLIDO-CEREBELLO-OLIVARY DEGENERATION WITH EUNUCHOIDISM
2. Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency.
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4. FAMI1,IAL ATAXIA, HYPOGONADISM AND RETINAL DEGENERATION
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1. Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor;Journal of Neurosciences in Rural Practice;2024-07-19
2. Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia;Molecular Biology Reports;2024-04-29
3. A de novo hexokinase 1 ( HK1 ) variant presenting as Boucher–Neuhäuser syndrome;American Journal of Medical Genetics Part A;2022-12-21
4. Neuropsychological assessment of Boucher-Neuhäuser syndrome: a case report;The Clinical Neuropsychologist;2021-08-29
5. CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER–NEUHÄUSER SYNDROME;RETINAL Cases & Brief Reports;2021-03
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