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Type II Collagenopathies
- ... PubMed Spranger J, Winterpacht A, Zabel B. The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr. 1994 ...
- Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped ...
- Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short ...
- Spondyloepiphyseal dysplasia (SED) with metatarsal shortening (formerly called Czech dysplasia) is an inherited condition that affects joint function and bone development. ...
- Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. ...
- ... PubMed Spranger J, Winterpacht A, Zabel B. The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr. 1994 ...
- ... gene provides instructions for making one component of type II collagen, called the pro-alpha1(II) chain. Type II collagen adds structure and strength to the connective ...
- ... provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly ... the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective ...
- ... I has the highest risk of retinal detachment. Type II also includes eye abnormalities, but type III does ... and is often called non-ocular Stickler syndrome). Types II and III are more likely than type I ...
- ... width (diameter) of another type of collagen molecule, type II collagen. Type II collagen is an important component of the vitreous and cartilage. The arrangement and size of type II collagen fibrils is essential for the normal structure ...