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Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
Orphanet J Rare Dis. 2011 Jul 12;6:50. doi: 10.1186/1750-1172-6-50.
Orphanet J Rare Dis. 2011.
PMID: 21749694
Free PMC article.
Review.
[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 …
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