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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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| Publicat a: | Clin Genet |
|---|---|
| Autors principals: | , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2018
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| Matèries: | |
| Accés en línia: | 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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