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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Vydáno v:CEN Case Rep
Hlavní autoři: Tanaka, Yu, Morisada, Naoya, Suzuki, Tomohiro, Ohashi, Yoshitaka, Ye, Ming Juan, Nozu, Kandai, Tsuruta, Satoru, Iijima, Kazumoto
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Singapore 2020
Témata:
Case Report
On-line přístup: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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