Condition: Knobloch Syndrome, Type I


rs1555877107 in COL18A1;SLC19A1 gene and Knobloch Syndrome, Type I PMID 25456301 2014 Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

rs1555860555 in MIR6815;COL18A1 gene and Knobloch Syndrome, Type I PMID 25456301 2014 Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.