title: Does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement?
authors.affiliation: South Australian Clinical Genetics Service, SA Pathology and School of Paediatric and Reproductive, Medicine, University of Adelaide, Adelaide, SA, Australia.
authors.forename: Dylan A
authors.initials: DA
authors.lastname: Mordaunt
authors.forename: Ravi
authors.initials: R
authors.lastname: Savaririyan
mesh_terms: D002386:Cataract / Q000235:genetics*; D004393:Dwarfism, Pituitary / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007533:Isoleucine-tRNA Ligase / Q000235:genetics*; D007888:Leigh Disease / Q000235:genetics*; D008297:Male; D009154:Mutation; D010523:Peripheral Nervous System Diseases / Q000235:genetics*
chemical_list: D007533:Isoleucine-tRNA Ligase