NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.

Muffels, Irena J J; Wiame, Elsa; Fuchs, Sabine A; Massink, Maarten P G; Rehmann, Holger; Musch, Jiska L I; Van Haaften, Gijs; Vertommen, Didier; van Schaftingen, Emile; van Hasselt, Peter M.

Afiliação

Muffels IJJ; Department of Metabolic Diseases, Division of Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands.
Wiame E; Laboratoire de biologie moléculaire, UCLouvain-Cliniques Universitaires Saint-Luc, 1200 Brussels, Belgium.
Fuchs SA; Department of Metabolic Diseases, Division of Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands.
Massink MPG; Department of Genetics, Section of Genome Diagnostics, Division Laboratories, Pharmacy and Biomedical Genetics, 3584 CX Utrecht, the Netherlands.
Rehmann H; Department of Energy and Biotechnology, Flensburg University of Applied Sciences, 24943 Flensburg, Germany.
Musch JLI; Department of Metabolic Diseases, Division of Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands.
Van Haaften G; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, 3584 CX Utrecht, the Netherlands.
Vertommen D; Mass Spectrometry Platform, de Duve Institute, UCLouvain, 1200 Brussels, Belgium.
van Schaftingen E; Laboratory of Physiological Chemistry, De Duve Institute, UCLouvain, 1200 Brussels, Belgium.
van Hasselt PM; Department of Metabolic Diseases, Division of Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands.