Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment - Srour, Myriam; Caron, Véronique; Pearson, Toni; Nielsen, Sarah B.; Lévesque, Sébastien; Delrue, Marie-Ange; Becker, Troy A.; Hamdan, Fadi F.; Kibar, Zoha; Sattler, Shannon G.; Schneider, Michael C.; Bitoun, Pierre; et al. (Human mutation, 2016)
Keywords: Adolescent; Child; Child, Preschool; developmental delay; Dystonic Disorders; Female; Gain of Function Mutation; gain-of-function; Genetic disorders; Humans; Infant, Newborn; Intellectual disabilities; intellectual disability; Intellectual Disability - genetics; Male; Models, Molecular; Motor ability; movement disorder; Movement Disorders - genetics; Mutation; Mutation, Missense; Protein Conformation; RARB; Receptors, Retinoic Acid - chemistry; Receptors, Retinoic Acid - genetics; retinoic acid; Transcriptional Activation; RARB; developmental delay; retinoic acid; movement disorder; gain-of-function; intellectual disability