A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4

Abstract Background There have been still few case reports of pseudohypoaldosteronism type II (PHA2), also known as Gordon's syndrome, genetically diagnosed, and this is the first report of familial PHA2 case in Japan with a novel D564N mutation in WNK4. Methods A 29‐year‐old woman was admitted to o...

Full beskrivning

Bibliografiska uppgifter

Huvudupphov:	Takashi Sakoh, Akinari Sekine, Takayasu Mori, Hiroki Mizuno, Masahiro Kawada, Rikako Hiramatsu, Eiko Hasegawa, Noriko Hayami, Masayuki Yamanouchi, Tatsuya Suwabe, Naoki Sawa, Yoshifumi Ubara, Takuya Fujimaru, Eisei Sohara, Uchida Shinichi, Junichi Hoshino, Kenmei Takaichi
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Wiley 2019-06-01
Serie:	Molecular Genetics & Genomic Medicine
Ämnen:	D564N familial case pseudohypoaldosteronism type II WNK4
Länkar:	https://doi.org/10.1002/mgg3.705
Taggar:	Lägg till en tagg Inga taggar, Lägg till första taggen!