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Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease

Monogenic disorders of the kidney typically affect either the glomerular or tubulointerstitial compartment producing a distinct set of clinical phenotypes. Primary focal segmental glomerulosclerosis (FSGS), for instance, is characterized by glomerular scarring with proteinuria and hypertension while...

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Detalles Bibliográficos
Autores principales: Olinger, Eric, Phakdeekitcharoen, Pran, Caliskan, Yasar, Orr, Sarah, Mabillard, Holly, Pickles, Charles, Tse, Yincent, Wood, Katrina, Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314882/
https://www.ncbi.nlm.nih.gov/pubmed/35289079
http://dx.doi.org/10.1002/ajmg.c.31964