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

Reference

Richards, A J, et al. “Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia, a Type II Collagenopathy Resulting from a Novel Mutation in the C-Propeptide Region of the Molecule”. Journal of Medical Genetics, vol. 39, no. 9, Aug. 2002, pp. 661–665, https://doi.org/10.1136/jmg.39.9.661.

PubMed Reference Number (PMID)

12205109