Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
暂无分享,去创建一个
[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.