Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study
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DOI: 10.3389/fped.2020.569389
Abstract: Background: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which resulted from pathogenic variants in the SLC3A1 and/or SLC7A9 genes. Among nephrolithiasis… read more here.
Keywords: stone; etiology; diversity phenotype; phenotype genetic ... See more keywords