Hypercalciuria and nephrolithiasis: expanding the renal phenotype of Donnai-Barrow syndrome

Whole Exome Sequencing detected novel likely pathogenic variants in LRP2 gene in two patients presenting with hearing and vision loss, and the Dent Disease (DD) classical renal phenotype, i.e. LMWP, hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting...

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Bibliografiske detaljer
Udgivet i:Clin Genet
Main Authors: Anglani, Franca, Terrin, Liliana, Brugnara, Milena, Battista, Michele, Cantaluppi, Vincenzo, Ceol, Monica, Bertoldi, Loris, Valle, Giorgio, Joy, Maliackal P., Pober, Barbara R, Longoni, Mauro
Format: Artigo
Sprog:Inglês
Udgivet: 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5995642/
https://ncbi.nlm.nih.gov/pubmed/29532936
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13242
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