Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure
Variants in the GLIS family zinc finger protein 2 (GLIS2) are a rare cause of nephronophthisis-related ciliopathies (NPHP-RC). A reduction in urinary concentration and a progressive chronic tubulointerstitial nephropathy with corticomedullary cysts are the major characteristic features of NPHP. NPHP...
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| Auteurs principaux: | , , , , , , |
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| Format: | article |
| Langue: | EN |
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Frontiers Media S.A.
2021
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| Accès en ligne: | https://doaj.org/article/5ea8894a3390408ebab0d658d0bea9d9 |
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