Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule

Richards AJ, Morgan J, Bearcroft PW, Pickering E, Owen MJ, Holmans P, Williams N, Tysoe C, Pope FM, Snead MP, Hughes H. Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. J Med Genet. 2002 Sep;39(9):661-5.