Condition: Congenital keratoglobus
rs1057516043 in
CHRDL1 gene and
Congenital keratoglobus
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
PMID 22284829 2012 X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.