title: A novel cause for primordial dwarfism revealed: defective tRNA modification.
abstract: A mutation in the WDR4 gene, coding for a tRNA-modifying enzyme, leads to reduced levels of guanosine methylation in tRNA in patients with primordial dwarfism.
authors.affiliation: Institute for Research in Biomedicine (IRB Barcelona), Carrer de Baldiri Reixac 10, Barcelona, 08028, Catalonia, Spain.
authors.forename: Liudmila
authors.initials: L
authors.lastname: Filonava
authors.affiliation: Institute for Research in Biomedicine (IRB Barcelona), Carrer de Baldiri Reixac 10, Barcelona, 08028, Catalonia, Spain.
authors.forename: Adrian Gabriel
authors.initials: AG
authors.lastname: Torres
authors.affiliation: Institute for Research in Biomedicine (IRB Barcelona), Carrer de Baldiri Reixac 10, Barcelona, 08028, Catalonia, Spain. lluis.ribas@irbbarcelona.org.|Catalan Institution for Research and Advanced Studies (ICREA), Passeig de Lluis Companys 23, Barcelona, 08010, Catalonia, Spain. lluis.ribas@irbbarcelona.org.
authors.forename: Lluis
authors.initials: L
authors.lastname: Ribas de Pouplana
mesh_terms: D004393:Dwarfism, Pituitary / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008745:Methylation; D009154:Mutation; D012323:RNA Processing, Post-Transcriptional / Q000235:genetics*; D012343:RNA, Transfer / Q000235:genetics* / Q000378:metabolism; D012441:Saccharomyces cerevisiae
chemical_list: D012343:RNA, Transfer