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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...
Autores principales: | Olinger, Eric, Phakdeekitcharoen, Pran, Caliskan, Yasar, Orr, Sarah, Mabillard, Holly, Pickles, Charles, Tse, Yincent, Wood, Katrina, Sayer, John A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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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 |
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