Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
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DOI: 10.1016/j.kint.2017.10.016
Abstract: The clinical diagnosis of inherited renal tubulopathies can be challenging as they are rare and characterized by significant phenotypic variability. Advances in sequencing technologies facilitate the establishment of a molecular diagnosis. Therefore, we determined the… read more here.
Keywords: genetic testing; clinical diagnosis; sequencing genes; diagnosis ... See more keywords
Inherited Renal Tubulopathies—Challenges and Controversies
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DOI: 10.3390/genes11030277
Abstract: Electrolyte homeostasis is maintained by the kidney through a complex transport function mostly performed by specialized proteins distributed along the renal tubules. Pathogenic variants in the genes encoding these proteins impair this function and have… read more here.
Keywords: tubulopathies challenges; renal tubulopathies; inherited renal; challenges controversies ... See more keywords