Condition: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness


rs121912882 in COL2A1;LOC105369752 gene and Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness PMID 9800905 1998 Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.