A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhäuser syndrome)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1991.tb03025.x/fullpdf
Reference4 articles.
1. Familial ataxia, hypogonadism and retinal degeneration;Boucher;Acta Neurol. Scand.,1969
2. Syndrome of cerebellar ataxia and hypogonadotropic hypogonadism: evidence for pituitary gonadotrophin deficiency;Fok;J. Neurol. Neurosurg. Psychiatry,1989
3. Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome);Limber;Am. J. Med. Genet.,1989
4. Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism;Neuhäuser;Clin. Genet.,1975
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1. CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER–NEUHÄUSER SYNDROME;RETINAL Cases & Brief Reports;2021-03
2. Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia;Ophthalmic Genetics;2019-05-04
3. Boucher–Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature;Journal of Neurology;2014-10-31
4. Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia;Journal of Neurology;2014-09-30
5. A patient with cerebellar ataxia, hypogonadotropic hypogonadism and vitelliform macular dystrophy: Boucher-Neuhaeuser syndrome;Rinsho Shinkeigaku;2010
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