Type II collagenopathies are a spectrum of phenotypes which affect the skeletal and visual systems. The severity ranges from perinatal lethality (achondrogenesis II) to the milder conditions caused by reduced collagen content in cartilage (Kniest dysplasia).
Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A
タイトル
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
