Article
DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.
Genes - 19 Dec 2023
Aiello Valeria, Ciurli Francesca, Conti Amalia, Cristalli Carlotta Pia, Lerario Sarah, Montanari Francesca, Sciascia Nicola, Vischini Gisella, Fabbrizio Benedetta, Di Costanzo Roberta, Olivucci Giulia, Pietra Andrea, Lopez Antonia, Zambianchi Loretta, La Manna Gaetano, Capelli Irene
Abstract excerpt
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a late-onset cilia-related disorder, characterized by progressive cystic enlargement of the kidneys. It is genetically heterogeneous with PKD1 and PKD2 pathogenic variants identified in approximately 78% and 15% of families, respectively. More recently, additional ADPKD genes, such as DNAJB11, have been identified and included in the diagnostic routine test...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.