Mutations in ROBO3 cause HGPPS.
Butcher
James
J
D001933:Brain Stem / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D007839:Functional Laterality / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009434:Neural Pathways / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D015835:Ocular Motility Disorders / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic / Q000172:deficiency / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D000097905:Roundabout Proteins
D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic; C499630:ROBO3 protein, human; D000097905:Roundabout Proteins