title: Homozygous TRAP1 sequence variant in a child with Leigh syndrome and normal kidneys.
authors.affiliation: Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Stephanie J
authors.initials: SJ
authors.lastname: Skinner
authors.affiliation: Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Kurston R
authors.initials: KR
authors.lastname: Doonanco
authors.affiliation: Courtagen Life Sciences, Woburn, Massachusetts, USA.
authors.forename: Richard G
authors.initials: RG
authors.lastname: Boles
authors.affiliation: Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Alicia K J
authors.initials: AK
authors.lastname: Chan
mesh_terms: D001003:Anal Canal / Q000002:abnormalities*; D000818:Animals; D004252:DNA Mutational Analysis; D004947:Esophagus / Q000002:abnormalities*; D055354:Exosomes; D005260:Female; D005820:Genetic Testing; D018841:HSP90 Heat-Shock Proteins; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D009154:Mutation; D013131:Spine / Q000002:abnormalities*; D014132:Trachea / Q000002:abnormalities*; D014718:Vesico-Ureteral Reflux / Q000235:genetics*
chemical_list: D018841:HSP90 Heat-Shock Proteins