Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2.

Iwafuchi, Yoichi; Morioka, Tetsuo; Morita, Takashi; Yanagihara, Toshio; Oyama, Yuko; Morisada, Naoya; Iijima, Kazumoto; Narita, Ichiei

Iwafuchi, Yoichi; Morioka, Tetsuo; Morita, Takashi; Yanagihara, Toshio; Oyama, Yuko; Morisada, Naoya; Iijima, Kazumoto; Narita, Ichiei.

Afiliação

Iwafuchi Y; Department of Internal Medicine, Koseiren Sanjo General Hospital, Sanjo, Japan.
Morioka T; Department of Internal Medicine, Kidney Center, Shinrakuen Hospital, Kobe, Japan.
Morita T; Department of Pathology, Shinrakuen Hospital, Kobe, Japan.
Yanagihara T; Department of Pediatrics, Yoshida Hospital, Tsubame, Japan.
Oyama Y; Department of Internal Medicine, Koseiren Sanjo General Hospital, Sanjo, Japan.
Morisada N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Narita I; Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

Case Rep Nephrol Dial ; 6(1): 61-9, 2016.

Article em En | MEDLINE | ID: mdl-27226968

Palavras-chave

Autophagic dysfunction; Congenital anomalies of the kidney and urinary tract; Focal segmental glomerulosclerosis; Funduscopic examination; Paired box protein 2 mutation; Renal coloboma syndrome

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Case Rep Nephrol Dial Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Japão

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