A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3

BACKGROUND: Pseudohypoaldosteronism type II (PHA II), also referred to as Gordon syndrome, is a rare renal tubular disease that is inherited in an autosomal manner. Though mutations in WNK1 and WNK4 partially account for this disorder, in 2012, 2 research groups showed that KLHL3 and CUL3 were the c...

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Hlavní autoři: Tsuji, Shoji, Yamashita, Miyoko, Unishi, Gen, Takewa, Reiko, Kimata, Takahisa, Isobe, Kiyoshi, Chiga, Motoko, Uchida, Shinichi, Kaneko, Kazunari
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3733749/
https://ncbi.nlm.nih.gov/pubmed/23902721
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-14-166
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