Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of <i>WT1</i>-associated nephrotic syndrome type 4.

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作者： Erica,Sanford ^[1] ; Terence,Wong ^[2] ; Katarzyna A,Ellsworth ^[1] ; Elizabeth,Ingulli ^[1] ; Stephen F,Kingsmore ^[3]

作者单位： Rady Children's Institute of Genomic Medicine, Rady Children's Hospital-San Diego, San Diego, California 92123, USA. ^[1] Division of Pediatric Intensive Care Medicine, Department of Pediatrics, University of California San Diego, La Jolla, California 92093, USA. ^[2] Division of Pediatric Nephrology, Department of Pediatrics, University of California San Diego, La Jolla, California 92093, USA. ^[3]

关键词 abnormal renal physiology abnormality of urine homeostasis anuria chronic metabolic acidosis episodic vomiting global glomerulosclerosis hypertensive crisis hyponatremia intermittent diarrhea nephrotic range proteinuria

主题词外显子(Exons);女(雌)性(Female);基因组学(Genomics);杂合子(Heterozygote);人类(Humans);婴儿(Infant);突变, 误义(Mutation, Missense);肾病综合征(Nephrotic Syndrome);表型(Phenotype);WT1蛋白质类(WT1 Proteins)

DOI 10.1101/mcs.a005470

PMID 32843431

发布时间 2022-12-30

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Cold Spring Harbor molecular case studies

2020年6卷4期

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Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of <i>WT1</i>-associated nephrotic syndrome type 4.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

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Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of <i>WT1</i>-associated nephrotic syndrome type 4.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

相关期刊

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