| 1 | PTBHS |
| Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? | |
| Poretti A, Häusler M, von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C, Moro F, Zanni G, Santorelli FM, Huisman TA, Weis J, Valente EM, Bertini E, Boltshauser E. | |
| Cerebellum 13(1):79-88. doi: 10.1007/s12311-013-0521-8. 2014 | |
| 2 | LAMA1, PTBHS |
| Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. | |
| Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J; University of Washington Center for Mendelian Genomics; Care4Rare Canada, Parboosingh JS, Innes AM, Doherty D. | |
| Am J Hum Genet 95(2):227-34. doi: 10.1016/j.ajhg.2014.07.007. 2014 | |