title: Mutations within the spliceosomal gene SNRPB affect its auto-regulation and are causative for classic cerebro-costo-mandibular syndrome.
authors.affiliation: Translational Laboratory in Genetic Medicine (TLGM), Agency for Science, Technology and Research (A*STAR), National University of Singapore, Singapore, Singapore. tay_yilin@tlgm.a-star.edu.sg.
authors.forename: Y-L
authors.initials: YL
authors.lastname: Tay
mesh_terms: D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008844:Micrognathism / Q000235:genetics*; D009154:Mutation; D012272:Ribs / Q000002:abnormalities*; D055517:snRNP Core Proteins / Q000235:genetics*
chemical_list: D055517:snRNP Core Proteins