| 1 | ASPH, FDLAB |
| Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. | |
| Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, Jia X, Xiong Y, Mégarbané A, Traboulsi EI, Alkuraya FS. | |
| Am J Hum Genet 94(5):755-9. doi: 10.1016/j.ajhg.2014.04.002. Epub 2014 Apr 24. 2014 | |
| 2 | FDLAB |
| Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance. | |
| Haddad R, Uwaydat S, Dakroub R, Traboulsi EI. | |
| Am J Med Genet 99(3):185-9. 2001 | |