Citations for
1ASPH, 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
2FDLAB
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