Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

[1]  F. Alkuraya Discovery of Rare Homozygous Mutations from Studies of Consanguineous Pedigrees , 2012, Current protocols in human genetics.

[2]  F. Alkuraya,et al.  Homozygous null mutation in ODZ3 causes microphthalmia in humans , 2012, Genetics in Medicine.

[3]  F. Alkuraya,et al.  Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations , 2011, Genetics in Medicine.

[4]  Wei Chen,et al.  Deep sequencing reveals 50 novel genes for recessive cognitive disorders , 2011, Nature.

[5]  T. Bardakjian,et al.  The genetics of anophthalmia and microphthalmia , 2011, Current opinion in ophthalmology.

[6]  Elias I. Traboulsi,et al.  Genetic Diseases of the Eye , 2011 .

[7]  R. Kirby,et al.  Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. , 2010, Birth defects research. Part A, Clinical and molecular teratology.

[8]  R. Maas,et al.  Building the developmental oculome: systems biology in vertebrate eye development and disease , 2010, Wiley interdisciplinary reviews. Systems biology and medicine.

[9]  Amit S Verma,et al.  Anophthalmia and microphthalmia , 2007, Orphanet journal of rare diseases.

[10]  Graham R Taylor,et al.  Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families , 2006, Human mutation.

[11]  M. Delpech,et al.  Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. , 2006, American journal of human genetics.

[12]  R. Maas,et al.  Conservation and non-conservation of genetic pathways in eye specification. , 2004, The International journal of developmental biology.

[13]  P. Mathers,et al.  Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. , 2003, Human molecular genetics.

[14]  H. Campbell,et al.  National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology , 2002, Journal of medical genetics.

[15]  R. Mcinnes,et al.  Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 , 2000, Nature Genetics.

[16]  R. Maas,et al.  Vertebrate eye development as modeled in Drosophila. , 2000, Human molecular genetics.

[17]  G. Saunders,et al.  Mouse Small eye results from mutations in a paired-like homeobox-containing gene , 1991, Nature.