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A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
Støve, Svein Isungset; Blenski, Marina; Stray-Pedersen, Asbjørg; Wierenga, Klaas J; Jhangiani, Shalini N; Akdemir, Zeynep Coban; Crawford, David; McTiernan, Nina; Myklebust, Line M; Purcarin, Gabriela; McNall-Knapp, Rene; Wadley, Alexandrea; Belmont, John W; Kim, Jeffrey J; Lupski, James R; Arnesen, Thomas.
Afiliação
  • Støve SI; Department of Biological Sciences, University of Bergen, 5020, Bergen, Norway.
  • Blenski M; Department of Surgery, Haukeland University Hospital, 5021, Bergen, Norway.
  • Stray-Pedersen A; Department of Biomedicine, University of Bergen, 5020, Bergen, Norway.
  • Wierenga KJ; Department of Biological Sciences, University of Bergen, 5020, Bergen, Norway.
  • Jhangiani SN; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0424, Oslo, Norway.
  • Akdemir ZC; Institute of Clinical Medicine, University of Oslo, 0318, Oslo, Norway.
  • Crawford D; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • McTiernan N; University of Oklahoma School of Medicine, Oklahoma City, OK, USA.
  • Myklebust LM; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Purcarin G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • McNall-Knapp R; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX, 77030, USA.
  • Wadley A; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Kim JJ; University of Oklahoma School of Medicine, Oklahoma City, OK, USA.
  • Lupski JR; Department of Biological Sciences, University of Bergen, 5020, Bergen, Norway.
  • Arnesen T; Department of Biological Sciences, University of Bergen, 5020, Bergen, Norway.
Eur J Hum Genet ; 26(9): 1294-1305, 2018 09.
Article em En | MEDLINE | ID: mdl-29748569
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Cardiomiopatia Hipertrófica / Deficiências do Desenvolvimento / Acetiltransferase N-Terminal A / Acetiltransferase N-Terminal E / Deficiência Intelectual Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Noruega País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Cardiomiopatia Hipertrófica / Deficiências do Desenvolvimento / Acetiltransferase N-Terminal A / Acetiltransferase N-Terminal E / Deficiência Intelectual Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Noruega País de publicação: Reino Unido