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NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.
McTiernan, Nina; Gill, Harinder; Prada, Carlos E; Pachajoa, Harry; Lores, Juliana; Arnesen, Thomas.
Affiliation
  • McTiernan N; Department of Biomedicine, University of Bergen, N-5020, Bergen, Norway.
  • Gill H; Department of Medical Genetics, Children's and Women's Health Centre of British Columbia, Vancouver, BC, V6H 3N1, Canada.
  • Prada CE; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 45229, Cincinnati, OH, USA.
  • Pachajoa H; Department of Pediatrics, University of Cincinnati College of Medicine, 45229, Cincinnati, OH, USA.
  • Lores J; Centro de Medicina Genomica y Metabolismo, Fundacion Cardiovascular de Colombia, Floridablanca, Colombia.
  • Arnesen T; Fundación Clínica Valle del Lili, Cali, Colombia.
Eur J Hum Genet ; 29(2): 280-288, 2021 02.
Article in En | MEDLINE | ID: mdl-32973342
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteus Syndrome / Genetic Predisposition to Disease / N-Terminal Acetyltransferase A / N-Terminal Acetyltransferase E Type of study: Risk_factors_studies Limits: Animals / Child, preschool / Female / Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Norway Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteus Syndrome / Genetic Predisposition to Disease / N-Terminal Acetyltransferase A / N-Terminal Acetyltransferase E Type of study: Risk_factors_studies Limits: Animals / Child, preschool / Female / Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Norway Country of publication: United kingdom