Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia

Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS. Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. Am J Hum Genet. 2013 Mar 7;92(3):387-91. Epub 2013 Feb 28.