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[Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].
Jiang HF, Deng J, Fang F, Li H, Wang XH, Dai LF. Jiang HF, et al. Zhonghua Er Ke Za Zhi. 2020 Nov 2;58(11):893-899. doi: 10.3760/cma.j.cn112140-20200716-00729. Zhonghua Er Ke Za Zhi. 2020. PMID: 33120460 Review. Chinese.
Methods: The clinical data and genetic features of two pontocerebellar hypoplasia type 6 (PCH6) patients with RARS2 variation diagnosed by the Department of Neurology, Beijing Children's Hospital from January 2017 to December 2018 were analyzed retrosp …
Methods: The clinical data and genetic features of two pontocerebellar hypoplasia type 6 (PCH6) patients with RA …