Article
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.
Clinical genetics - 1 Jul 2018
Anglani F, Terrin L, Brugnara M, Battista M, Cantaluppi V, Ceol M, Bertoldi L, Valle G, Joy M P, Pober B R, Longoni M
Abstract excerpt
Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.