A carregar...
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...
Na minha lista:
| Publicado no: | CEN Case Rep |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Singapore
2020
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|