The 4H syndrome due to RNF216 mutation
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference7 articles.
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3. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations;Wolf;Neurology,2014
4. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum;Synofzik;Brain,2014
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1. Ring finger protein 216 loss‐of‐function induces white matter hyperintensities by inhibiting oligodendroglia proliferation;Cell Biochemistry and Function;2024-06
2. Clinical and genetic spectrum ofRNF216-related disorder: a new case and literature review;Journal of Medical Genetics;2023-11-27
3. A Teenager with Benign Hereditary Chorea and Selective Tooth Agenesis Type 3;Movement Disorders Clinical Practice;2023-08
4. A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome;BMC Medical Genomics;2023-05-09
5. A Novel Mutation in Rnf216 Gene in a Turkish Case With Gordon Holmes Syndrome;2023-01-20
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