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Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon
Dent disease is a rare genetic proximal tubulopathy which is under-recognized. Its phenotypic heterogeneity has led to several different classifications of the same disorder, but it is now widely accepted that the triad of symptoms low-molecular-weight proteinuria, hypercalciuria and nephrocalcinosi...
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| Publicado no: | Hum Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7889681/ https://ncbi.nlm.nih.gov/pubmed/32860533 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-020-02219-2 |
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