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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Detalles Bibliográficos
Autores principales: Al Alawi, Intisar, Powell, Laura, Rice, Sarah J., Al Riyami, Mohammed S., Al-Riyami, Marwa, Al Salmi, Issa, Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669607/
https://www.ncbi.nlm.nih.gov/pubmed/34917135
http://dx.doi.org/10.3389/fgene.2021.791495

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669607/
https://www.ncbi.nlm.nih.gov/pubmed/34917135
http://dx.doi.org/10.3389/fgene.2021.791495

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