Type II Collagenopathies


Description: Conditions caused by mutations in Type II Collagen including achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, Kniest dysplasia, Stickler arthroophthalmopathy and mild dominant spondyloarthropathy.

Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.
Source/Author: Lachman RS, Tiller GE, Graham JM Jr, Rimoin DL. Eur J Radiol. 1992 Jan-Feb;14(1):1-10. 
Abstract
Discussion of the skeletal dysplasias that are caused by genetic mutations in types I and II collagen.

The type II collagenopathies: a spectrum of chondrodysplasias.
Source/Author: Spranger J, Winterpacht A, Zabel B. Eur J Pediatr. 1994 Feb;153(2):56-65. 
Abstract
Discussion of a group of disorders caused by mutations in type II collagen including achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, Kniest dysplasia, Stickler arthroophthalmopathy and mild dominant spondyloarthropathy