| 1 | BCPMG, OCLN |
| A novel rearrangement of occludin causes brain calcification and renal dysfunction. | |
| LeBlanc MA, Penney LS, Gaston D, Shi Y, Aberg E, Nightingale M, Jiang H, Gillett RM, Fahiminiya S, Macgillivray C, Wood EP, Acott PD, Khan MN, Samuels ME, Majewski J, Orr A, McMaster CR, Bedard K. | |
| Hum Genet 132(11):1223-34. doi: 10.1007/s00439-013-1327-y. Epub 2013 Jun 21. 2013 | |
| 2 | BCPMG, OCLN |
| Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. | |
| O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ. | |
| Am J Hum Genet 87(3):354-64. Epub 2010 Aug 19.PMID: 20727516 2010 | |