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A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.
Jones, Lynelle K; Lam, Rachel; McKee, Karen K; Aleksandrova, Maya; Dowling, John; Alexander, Stephen I; Mallawaarachchi, Amali; Cottle, Denny L; Short, Kieran M; Pais, Lynn; Miner, Jeffery H; Mallett, Andrew J; Simons, Cas; McCarthy, Hugh; Yurchenco, Peter D; Smyth, Ian M.
Afiliação
  • Jones LK; Department of Anatomy and Developmental Biology, Development and Stem Cells Program, Monash Biomedicine Discovery Institute, Monash University, Melbourne 3800, Australia.
  • Lam R; Department of Anatomy and Developmental Biology, Development and Stem Cells Program, Monash Biomedicine Discovery Institute, Monash University, Melbourne 3800, Australia.
  • McKee KK; Department of Pathology and Laboratory Medicine, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ 08901, USA.
  • Aleksandrova M; Department of Pathology and Laboratory Medicine, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ 08901, USA.
  • Dowling J; AnatPath, Melbourne 3185, Australia.
  • Alexander SI; Nephrology Department, Centre for Kidney Research, The Children's Hospital at Westmead, Sydney 2145, New South Wales, Australia.
  • Mallawaarachchi A; Department of Medical Genomics, Royal Prince Alfred Hospital; Garvan Institute of Medical Research, Sydney 2010, New South Wales, Australia.
  • Cottle DL; Department of Anatomy and Developmental Biology, Development and Stem Cells Program, Monash Biomedicine Discovery Institute, Monash University, Melbourne 3800, Australia.
  • Short KM; Department of Anatomy and Developmental Biology, Development and Stem Cells Program, Monash Biomedicine Discovery Institute, Monash University, Melbourne 3800, Australia.
  • Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Miner JH; Division of Nephrology, Department of Medicine and Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, MO 63110, USA.
  • Mallett AJ; Kidney Health Service, Royal Brisbane and Women's Hospital and the Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane 4072, Queensland, Australia.
  • Simons C; Murdoch Children's Research Institute, The Royal Children's Hospital Melbourne, Melbourne 3052, Victoria, Australia.
  • McCarthy H; The Sydney Children's Hospitals Network and the Children's Hospital Westmead Clinical School, University of Sydney, Sydney 2145, New South Wales, Australia.
  • Yurchenco PD; Department of Pathology and Laboratory Medicine, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ 08901, USA.
  • Smyth IM; Department of Anatomy and Developmental Biology, Development and Stem Cells Program, Monash Biomedicine Discovery Institute, Monash University, Melbourne 3800, Australia ian.smyth@monash.edu.
Development ; 147(21)2020 06 22.
Article em En | MEDLINE | ID: mdl-32439764
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Laminina / Desenvolvimento Fetal / Polimerização / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Child, preschool / Humans / Male / Newborn 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: Deficiências do Desenvolvimento / Laminina / Desenvolvimento Fetal / Polimerização / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Child, preschool / Humans / Male / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article