C12orf57

Publications

Alrakaf L et al. Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities. Am J Med Genet A. 2018;176(3):715-721. PMID: 29383837.

Akizu N et al. Whole-exome sequencing identifies mutated C12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet. 2013;92(3):392-400. PMID: 23453666.

Zahrani F et al. Mutations in C12orf57 cause a syndromic form of colobomatous microphthalmia. Am J Hum Genet. 2013;92(3):387-391. PMID: 23453665.

Platzer K et al. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. Am J Med Genet A. 2014;164(8):1976-1980. 24798461