Links
[1] https://disorders.eyes.arizona.edu/disorders/coloboma-ptosis-hypertelorism-and-global-delay
[2] http://omim.org/entry/243310
[3] http://ghr.nlm.nih.gov/gene/ACTG1
[4] https://disorders.eyes.arizona.edu/references/exome-sequencing-identifies-compound-heterozygous-mutations-c12orf57-two-siblings-severe-
[5] https://disorders.eyes.arizona.edu/references/newly-recognized-autosomal-recessive-syndrome-affecting-neurologic-function-and-vision
[6] https://disorders.eyes.arizona.edu/references/whole-exome-sequencing-identifies-mutated-c12orf57-recessive-corpus-callosum-hypoplasia
[7] https://disorders.eyes.arizona.edu/references/new-autosomal-recessive-multiple-congenital-abnormalitiesmental-retardation-syndrome-cran