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...

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Publicado en:Genet Med
Main Authors: Schönauer, Ria, Baatz, Sebastian, Nemitz-Kliemchen, Melanie, Frank, Valeska, Petzold, Friederike, Sewerin, Sebastian, Popp, Bernt, Münch, Johannes, Neuber, Steffen, Bergmann, Carsten, Halbritter, Jan
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group US 2020
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Article
Acceso en liña: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
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