Novel <i>PKD2</i> Missense Mutation p.Ile424Ser in an Individual with Multiple Hepatic Cysts: A Case Report

Novel <i>PKD2</i> Missense Mutation p.Ile424Ser in an Individual with Multiple Hepatic Cysts: A Case Report

We report a novel missense mutation, p.Ile424Ser, in the <i>PKD2</i> gene of an autosomal dominant polycystic kidney disease (ADPKD) patient with multiple liver cysts. A 57-year-old woman presented to our university hospital with abdominal fullness, decreasing appetite, and dyspnea for t...

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Bibliographic Details
Main Authors: Seiko Miura, Yo Niida, Chieko Hashizume, Ai Fujii, Yuta Takagaki, Kahoru Kusama, Sumiyo Akazawa, Tetsuya Minami, Tsuyoshi Mukai, Kengo Furuichi, Mutsumi Tsuchishima, Nobuhiko Ueda, Hiroyuki Takamura, Daisuke Koya, Tohru Ito
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Medicines
Subjects:
autosomal dominant polycystic kidney disease (ADPKD)
<i>PKD2</i> (polycystic kidney disease type 2)
polycystic liver
estrogen
Online Access:https://www.mdpi.com/2305-6320/9/4/25

Internet

https://www.mdpi.com/2305-6320/9/4/25

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