ASPH

Publications

Patel N et al. Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. Am J Hum Genet. 2014;94(5):755-9. PMID: 24768550.

Haddad R et al. Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance. Am J Med Genet. 2001;99(3):185-9. PMID: 11241487.

Mansour AM et al. Anterior segment imaging and treatment of a case with syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. Case Rep Ophthalmol. 2013;4(1):84-90. PMID: 23687502.

Shawaf S et al. A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. Ophthalmic Genet. 1995;16(4):163-9. PMID: 8749053.