Cargando…
Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract
BACKGROUND: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described. Variable penetrance and intrafamilial variability have been demonstrate...
Autores principales: | Madariaga, Leire, García-Castaño, Alejandro, Ariceta, Gema, Martínez-Salazar, Rosa, Aguayo, Aníbal, Castaño, Luis |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543961/ https://www.ncbi.nlm.nih.gov/pubmed/31198537 http://dx.doi.org/10.1093/ckj/sfy102 |
Ejemplares similares
-
Long-term outcome in a case series of Denys–Drash syndrome
por: Roca, Neus, et al.
Publicado: (2019) -
Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia
por: García-Castaño, Alejandro, et al.
Publicado: (2018) -
25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics
por: Castano, Luis, et al.
Publicado: (2022) -
The risk for urinary tract infections with sodium-glucose cotransporter 2 inhibitors: no longer a cause of concern?
por: Sarafidis, Pantelis A, et al.
Publicado: (2019) -
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
por: García‐Castaño, Alejandro, et al.
Publicado: (2020)