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

We report a novel missense mutation, p.Ile424Ser, in the PKD2 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 three months. A perc...

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Detalles Bibliográficos
Autores principales: Miura, Seiko, Niida, Yo, Hashizume, Chieko, Fujii, Ai, Takagaki, Yuta, Kusama, Kahoru, Akazawa, Sumiyo, Minami, Tetsuya, Mukai, Tsuyoshi, Furuichi, Kengo, Tsuchishima, Mutsumi, Ueda, Nobuhiko, Takamura, Hiroyuki, Koya, Daisuke, Ito, Tohru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031803/
https://www.ncbi.nlm.nih.gov/pubmed/35447873
http://dx.doi.org/10.3390/medicines9040025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031803/
https://www.ncbi.nlm.nih.gov/pubmed/35447873
http://dx.doi.org/10.3390/medicines9040025

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