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Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation.
McClatchey, Martin A; du Toit, Zachary D; Vaughan, Rhys; Whatley, Sharon D; Martins, Sara; Hegde, Shivaram; Naude, Johann Te Water; Thomas, David H; Griffiths, David F; Clarke, Angus J; Fry, Andrew E.
Afiliação
  • McClatchey MA; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.
  • du Toit ZD; Department of General Medicine, Glangwili General Hospital, SA31 2AF, Carmarthen, UK.
  • Vaughan R; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.
  • Whatley SD; Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.
  • Martins S; Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.
  • Hegde S; Department of Paediatric Nephrology, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.
  • Naude JTW; Paediatric Neurology Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.
  • Thomas DH; Department of Cellular Pathology, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.
  • Griffiths DF; Department of Cellular Pathology, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.
  • Genomics England Research Consortium; Genomics England, London, EC1M 6BQ, UK.
  • Clarke AJ; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK; Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.
  • Fry AE; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK; Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK. Electronic address: fryae@cardiff.ac.uk.
Eur J Med Genet ; 63(9): 103972, 2020 Sep.
Article em En | MEDLINE | ID: mdl-32531461
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteinúria / Glomerulosclerose Segmentar e Focal / Proteínas de Transporte / Deficiência Intelectual / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteinúria / Glomerulosclerose Segmentar e Focal / Proteínas de Transporte / Deficiência Intelectual / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article