Complex movement disorders in a sporadic Boucher-Neuhäuser Syndrome: Phenotypic manifestations beyond the triad
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference8 articles.
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2. Familial ataxia, hypogonadism and retinal degeneration;Boucher;Acta Neurol Scand,1969
3. Familial cerebellar ataxia and hypogonadism;Matthews;Brain,1964
4. Dystonia in the Woodhouse Sakati syndrome: a new family and literature review;Schneider;Mov Disord,2008
5. Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome;Rump;J Med Genet,1997
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1. Boucher Neuhäuser Syndrome in Twins: A Rare and Unusual Cause of Cerebellar Ataxia;Movement Disorders Clinical Practice;2023-02-14
2. Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher–Neuhäuser Syndrome;Frontiers in Genetics;2022-02-07
3. 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
4. Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia;Ophthalmic Genetics;2019-05-04
5. Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge;eNeurologicalSci;2019-03
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