title: Progressive microcephaly is caused by compound-heterozygous mutations in QARS.
abstract: Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures Zhang et al. (2014) The American Journal of Human Genetics;94(4):547-558.
authors.affiliation: Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada. swaltl@cmmt.ubc.ca.
authors.forename: S
authors.initials: S
authors.lastname: Waltl
mesh_terms: D000604:Amino Acyl-tRNA Synthetases / Q000235:genetics*; D000818:Animals; D001927:Brain Diseases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009154:Mutation; D012640:Seizures / Q000235:genetics*
chemical_list: D000604:Amino Acyl-tRNA Synthetases