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Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Hanafusa, Hiroaki; Hidaka, Yoshihiko; Yamaguchi, Tomomi; Shimojo, Hisashi; Tsukahara, Takanori; Murase, Tsubasa; Matsuoka, Daisuke; Chiba, Nao; Shimada, Shun; Morokawa, Hirokazu; Omori, Norio; Minoura, Hironori; Nagano, China; Takano, Kyoko; Nakamura, Katsuya; Wakui, Keiko; Fukushima, Yoshimitsu; Uehara, Takeshi; Nakazawa, Yozo; Iijima, Kazumoto; Nozu, Kandai; Kosho, Tomoki.
Afiliação
  • Hanafusa H; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Hidaka Y; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
  • Yamaguchi T; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan.
  • Shimojo H; Problem-Solving Oriented Training Program for Advanced Medical Personnel: NGSD (Next Generation Super Doctor) Project, Matsumoto, Japan.
  • Tsukahara T; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Murase T; Department of Molecular Genetics, Wakayama Medical University, Wakayama, Japan.
  • Matsuoka D; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Chiba N; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
  • Shimada S; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan.
  • Morokawa H; Department of Laboratory Medicine, Shinshu University Graduate School of Medicine, Matsumoto, Japan.
  • Omori N; Department of Pathology, Aizawa Hospital, Matsumoto, Japan.
  • Minoura H; Department of Pediatrics, Iida Municipal Hospital, Iida, Japan.
  • Nagano C; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Takano K; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Nakamura K; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Wakui K; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Fukushima Y; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Uehara T; Department of Pediatric Intensive Care, Nagano Children's Hospital, Azumino, Japan.
  • Nakazawa Y; Department of Pediatric Intensive Care, Nagano Children's Hospital, Azumino, Japan.
  • Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Nozu K; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Kosho T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Am J Med Genet A ; 185(7): 2175-2179, 2021 07.
Article em En | MEDLINE | ID: mdl-33884742
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esclerose / Canal de Cátion TRPC6 / Nefropatias / Síndrome Nefrótica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esclerose / Canal de Cátion TRPC6 / Nefropatias / Síndrome Nefrótica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article