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A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease.
Saida, Ken; Kamei, Koichi; Morisada, Naoya; Ogura, Masao; Ogata, Kentaro; Matsuoka, Kentaro; Nozu, Kandai; Iijima, Kazumoto; Ito, Shuichi.
Afiliação
  • Saida K; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.
  • Kamei K; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.
  • Morisada N; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Hyogo, Japan.
  • Ogura M; Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, 1-6-7, Minatojimaminami-machi, Chuo-ku, Kobe, 650-0047, Hyogo, Japan.
  • Ogata K; Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.
  • Matsuoka K; Department of Pathology, Federation of National Service Personnel Mutual Aid Associations Tachikawa Hospital, 4-2-22, Nishiki-cho, Tachikawa-shi, 190-8531, Japan.
  • Nozu K; Division of Pathology, Dokkyo Medical University Koshigaya Hospital, 2-1-50, Minami-Koshigaya, Koshigaya, 343-8555, Saitama, Japan.
  • Iijima K; Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, 1-6-7, Minatojimaminami-machi, Chuo-ku, Kobe, 650-0047, Hyogo, Japan.
  • Ito S; Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, 1-6-7, Minatojimaminami-machi, Chuo-ku, Kobe, 650-0047, Hyogo, Japan.
CEN Case Rep ; 9(1): 19-23, 2020 02.
Article em En | MEDLINE | ID: mdl-31538321
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Refluxo Vesicoureteral / Glomerulosclerose Segmentar e Focal / Coloboma / Insuficiência Renal / Fator de Transcrição PAX2 / Falência Renal Crônica Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Child / Humans / Male Idioma: En Revista: CEN Case Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão País de publicação: Japão
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Refluxo Vesicoureteral / Glomerulosclerose Segmentar e Focal / Coloboma / Insuficiência Renal / Fator de Transcrição PAX2 / Falência Renal Crônica Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Child / Humans / Male Idioma: En Revista: CEN Case Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão País de publicação: Japão