关键词: HARS2 Next-generation sequencing Perrault syndrome Premature ovarian insufficiency Sensorineural hearing impairment
Mesh : Adolescent Adult Amino Acyl-tRNA Synthetases / genetics Child Female Gonadal Dysgenesis, 46,XX / genetics physiopathology Hearing Loss / genetics physiopathology Hearing Loss, Sensorineural / genetics physiopathology Heterozygote High-Throughput Nucleotide Sequencing Humans Male Mutation, Missense Pedigree Primary Ovarian Insufficiency / genetics Whole Exome Sequencing
来 源:
DOI:10.1016/j.ejmg.2019.103733
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