UBE2A变异病例分享

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部分参考文献

1.Cordeddu V, Macke EL, Radio FC, et al. Refinement of theclinical and mutational spectrum of UBE2A deficiency syndrome. Clin Genet. 2020Aug;98(2):172-178.   

2.Nascimento RM, Otto PA, de Brouwer AP, et al. UBE2A, which encodes aubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. Am J Hum Genet. 2006 Sep;79(3):549-55. 

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