换一批
换一批Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the <i>HARS2</i> gene.
作者：
主题词
成年人(Adult);氨酰基tRNA合成酶类(Amino Acyl-tRNA Synthetases);女(雌)性(Female);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);基因型(Genotype);性腺发育不全, 46,XX(Gonadal Dysgenesis, 46,XX);听觉丧失, 感音神经性(Hearing Loss, Sensorineural);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);纯合子(Homozygote);人类(Humans);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);突变, 误义(Mutation, Missense);系谱(Pedigree);表型(Phenotype)
DOI
10.1089/gtmb.2021.0092
PMID
34406847
发布时间
2022-01-28
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