Cargando…
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
PURPOSE: Autosomal dominant polycystic kidney disease (ADPKD) represents the most common hereditary nephropathy. Despite growing evidence for genetic heterogeneity, ADPKD diagnosis is still primarily based upon clinical imaging criteria established before discovery of additional PKD genes. This stud...
Autores principales: | Schönauer, Ria, Baatz, Sebastian, Nemitz-Kliemchen, Melanie, Frank, Valeska, Petzold, Friederike, Sewerin, Sebastian, Popp, Bernt, Münch, Johannes, Neuber, Steffen, Bergmann, Carsten, Halbritter, Jan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group US
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394878/ https://www.ncbi.nlm.nih.gov/pubmed/32398770 http://dx.doi.org/10.1038/s41436-020-0816-3 |
Ejemplares similares
-
Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery
por: Scherer, Lotte, et al.
Publicado: (2023) -
Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly
por: Sewerin, Sebastian, et al.
Publicado: (2021) -
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting
por: Schönauer, Ria, et al.
Publicado: (2019) -
Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics
por: de Fallois, Jonathan, et al.
Publicado: (2021) -
Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting
por: Petzold, Friederike, et al.
Publicado: (2023)