A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-022-06546-2.pdf
Reference5 articles.
1. Thomas Q, Vitobello A, Tran Mau-Them F, et al (2020) High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics. Journal of Medical Genetics 1–8. https://doi.org/10.1136/jmedgenet-2020-107369
2. Posey JE, Harel T, Liu P et al (2017) Resolution of disease phenotypes resulting from multilocus genomic variation. N Engl J Med 376:21–31. https://doi.org/10.1056/NEJMoa1516767
3. Zheng Y, Peng Y, Zhang S, et al (2019) Capillary malformation–arteriovenous malformation combined alagille syndrome in a patient with double gene variations of RASA1 and NOTCH2. Frontiers in Genetics 10. https://doi.org/10.3389/fgene.2019.01088
4. Hsieh PC, Wang CC, Tsai CL, et al (2019) POLG R964C and GBA L444P mutations in familial Parkinson’s disease: case report and literature review. Brain and Behavior 9:1–7. https://doi.org/10.1002/brb3.1281
5. Fernández-Marmiesse A, Sánchez-Iglesias S, Darling A et al (2019) A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy. Seizure 71:161–165. https://doi.org/10.1016/j.seizure.2019.07.019
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