References
- Verheij JB, de Munnik SA, Dijkhuizen T, et al. An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet 2009;52:353–357.
- Dauber A, Golzio C, Guenot C, et al. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. Am J Hum Genet 2013;93:798–811.
- El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, et al. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. Eur J Hum Genet 2016;25:43–51.
- Santos-Simarro F, García EV, Del Pozo Maté Á, et al. Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants. Clin Genet 2017; Online first. doi:10.1111/cge.12965
- Hastings ML, Allemand E, Duelli DM, et al. Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65). PLoS One 2007;2:e538.
- Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A 2005;133A:306–308.
- Williamson KA, FitzPatrick DR. The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet 2014;57:369–380.
- Prasov L, Masud T, Khaliq S, et al. ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. Hum Molec Genet 2012;21:3681–3694.
- Aponte EP, Pulido JS, Ellison JW, et al. A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy. Ophthalmic Genet 2009;30:99–102.
- Ranchod TM, Quiram PA, Hathaway N, et al. Microcornea, posterior megalolenticonus, persistent fetal vasculature, and coloboma: a new syndrome. Ophthalmology 2010;117:1843–1847.
- Takkar B, Chandra P, Kumar V, et al. A case of iridofundal coloboma with persistent fetal vasculature and lens subluxation. J AAPOS 2016;20:180–182.
- Liu C, Nathans J. An essential role for frizzled 5 in mammalian ocular development. Development 2008;135:3567–3576.
- Liu C, Widen SA, Williamson KA, et al. A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. Hum Mol Genet 2016;25:1382–1391.