Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Surgery
Reference5 articles.
1. Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred;Seminara;J. Clin. Endocrinol. Metab.,2002
2. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination;Margolin;N. Engl. J. Med,2013
3. STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations;Hayer;Orphanet J. Rare Dis.,2017
4. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum;Synofzik;Brain,2014
5. RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder;Santens;Neurology,2015
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1. Gordon Holmes syndrome - A rare case of ataxia, hypogonadism, and cerebral white matter changes with expanding phenotype and review of cerebellar ataxia with hypogonadism;Annals of Movement Disorders;2024-09-03
2. Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders;Brain;2024-05-13
3. Establishment of FDHSi003-A, a human induced pluripotent stem cell (hiPSC) line with a mutation of RNF216 c.1948G > T;Stem Cell Research;2024-04
4. Clinical and genetic spectrum ofRNF216-related disorder: a new case and literature review;Journal of Medical Genetics;2023-11-27
5. A novel mutation inRNF216gene in an Indian case with Gordon Holmes syndrome;BMJ Case Reports;2023-11
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