Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12031-021-01953-0.pdf
Reference12 articles.
1. Alqwaifly M, Bohlega S (2016) Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation. Neurol Int 8:6444. https://doi.org/10.4081/ni.2016.6444
2. Calandra CR et al (2019) Gordon holmes syndrome caused by RNF216 novel mutation in 2 argentinean siblings. Mov Disord Clin Pract 6:259–262. https://doi.org/10.1002/mdc3.12721
3. Chen KL et al (2020) A novel de novo RNF216 mutation associated with autosomal recessive Huntington-like disorder. Ann Clin Transl Neurol. https://doi.org/10.1002/acn3.51047
4. Ganos C, Hersheson J, Adams M, Bhatia KP, Houlden H (2015) The 4H syndrome due to RNF216 mutation Parkinsonism & related disorders 21:1122–1123. https://doi.org/10.1016/j.parkreldis.2015.07.012
5. Hayer SN et al (2017) STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations. Orphanet J Rare Dis 12:31. https://doi.org/10.1186/s13023-017-0580-x
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