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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Genet Med
Hlavní autoři: Schönauer, Ria, Baatz, Sebastian, Nemitz-Kliemchen, Melanie, Frank, Valeska, Petzold, Friederike, Sewerin, Sebastian, Popp, Bernt, Münch, Johannes, Neuber, Steffen, Bergmann, Carsten, Halbritter, Jan
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group US 2020
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7394878/
https://ncbi.nlm.nih.gov/pubmed/32398770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0816-3
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky