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A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome
We present a female patient with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome. The proband was an 18-year-old woman presenting with intellectual disability, renal insufficiency, and hyperuricemia. Abdominal ultrasonography did not reveal any abnor...
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| Publicat a: | CEN Case Rep |
|---|---|
| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Singapore
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8019452/ https://ncbi.nlm.nih.gov/pubmed/33048330 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-020-00543-0 |
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