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A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report.
Shirai, Yoko; Miura, Kenichiro; Kaneko, Naoto; Ishizuka, Kiyonobu; Endo, Amane; Hashimoto, Taeko; Kanda, Shoichiro; Harita, Yutaka; Hattori, Motoshi.
Afiliação
  • Shirai Y; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.
  • Miura K; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.
  • Kaneko N; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.
  • Ishizuka K; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.
  • Endo A; Department of Pediatrics and Adolescent Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan.
  • Hashimoto T; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
  • Kanda S; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Harita Y; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Hattori M; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan. hattori@twmu.ac.jp.
BMC Nephrol ; 22(1): 417, 2021 12 20.
Article em En | MEDLINE | ID: mdl-34930159
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glomerulosclerose Segmentar e Focal / Proteínas de Transporte / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glomerulosclerose Segmentar e Focal / Proteínas de Transporte / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article