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

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 our...

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Detalles Bibliográficos
Autores principales: Sakoh, Takashi, Sekine, Akinari, Mori, Takayasu, Mizuno, Hiroki, Kawada, Masahiro, Hiramatsu, Rikako, Hasegawa, Eiko, Hayami, Noriko, Yamanouchi, Masayuki, Suwabe, Tatsuya, Sawa, Naoki, Ubara, Yoshifumi, Fujimaru, Takuya, Sohara, Eisei, Shinichi, Uchida, Hoshino, Junichi, Takaichi, Kenmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565545/
https://www.ncbi.nlm.nih.gov/pubmed/31044551
http://dx.doi.org/10.1002/mgg3.705

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