| 1 | LAMSHF, SOX5 |
| Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders. | |
| Nesbitt A, Bhoj EJ, McDonald Gibson K, Yu Z, Denenberg E, Sarmady M, Tischler T, Cao K, Dubbs H, Zackai EH, Santani A. | |
| Am J Med Genet A 167A(11):2548-54. doi: 10.1002/ajmg.a.37221. Epub 2015 Jun 25. Review. 2015 | |
| 2 | LAMSHF, SOX5 |
| Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. | |
| Lee RW, Bodurtha J, Cohen J, Fatemi A, Batista D. | |
| Pediatr Neurol 48(4):317-20. doi: 10.1016/j.pediatrneurol.2012.12.013. 2013 | |
| 3 | LAMSHF, SOX5 |
| Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. | |
| Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG. | |
| Hum Mutat 33(4):728-40. doi: 10.1002/humu.22037. 2012 | |