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Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka; Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N; Muzny, Donna M; Tarailo-Graovac, Maja; van Karnebeek, Clara D M; Lupski, James R; Ren, Dejian; Yoon, Grace.
Afiliação
  • Stray-Pedersen A; Department of Molecular and Human Genetics, Baylor College of Medicine and the Baylor-Hopkins Center for Mendelian Genomics, Houston, TX 77030, USA; Norwegian National Newborn Screening Program, Oslo University Hospital, Oslo 0424, Norway.
  • Cobben JM; Department of Pediatrics, Academic Medical Center University Hospital, Amsterdam 1105 AZ, the Netherlands.
  • Prescott TE; Department of Medical Genetics, Oslo University Hospital, Oslo 0424, Norway.
  • Lee S; Department of Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Cang C; Department of Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Aranda K; Department of Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Ahmed S; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Alders M; Department of Clinical Genetics, AMC University Hospital, Amsterdam 1105 AZ, the Netherlands.
  • Gerstner T; Department of Pediatrics, Sørlandet Hospital, Arendal 4838, Norway.
  • Aslaksen K; Department of Pediatrics, Sørlandet Hospital, Kristiansand 4615, Norway.
  • Tétreault M; Department of Human Genetics, McGill University and Genome Québec Innovation Center, Montréal, QC H3A 0G4, Canada.
  • Qin W; The Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.
  • Hartley T; The Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine and the Baylor-Hopkins Center for Mendelian Genomics, Houston, TX 77030, USA; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX 77030, USA.
  • Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine and the Baylor-Hopkins Center for Mendelian Genomics, Houston, TX 77030, USA; Baylor College of Medicine Human Genome Sequencing Center, Houston, TX 77030, USA.
  • Tarailo-Graovac M; Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
  • van Karnebeek CD; Department of Pediatrics and Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine and the Baylor-Hopkins Center for Mendelian Genomics, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular and Human Genetics,
  • Ren D; Department of Biology, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: dren@sas.upenn.edu.
  • Yoon G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada; Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address: grace.yoon@utoronto.ca.
Am J Hum Genet ; 98(1): 202-9, 2016 Jan 07.
Article em En | MEDLINE | ID: mdl-26708751
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Proteínas de Transporte / Alelos / Transtornos do Crescimento / Proteínas de Membrana / Deficiência Intelectual / Hipotonia Muscular / Mutação Limite: Adolescent / Child / Child, preschool / Female / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Noruega
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Proteínas de Transporte / Alelos / Transtornos do Crescimento / Proteínas de Membrana / Deficiência Intelectual / Hipotonia Muscular / Mutação Limite: Adolescent / Child / Child, preschool / Female / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Noruega