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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Hlavní autoři: 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
Médium: Článek
Jazyk:English
Vydáno: MDPI AG 2022-03-01
Edice:Medicines
Témata:
autosomal dominant polycystic kidney disease (ADPKD)
<i>PKD2</i> (polycystic kidney disease type 2)
polycystic liver
estrogen
On-line přístup:https://www.mdpi.com/2305-6320/9/4/25

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

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