Spondyloepiphyseal dysplasia is a form of dominantly inherited dwarfism in which cartilage structure is abnormal and endochondral bone formation is impaired.Otherwise, affected patients are in good health.The abnormal cartilage function in this condition is most likely caused by defects in:

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Type II is the major cartilage collagen.Type I collagen is also abundant in some types of cartilage, but it plays important roles in other tissues as well.

Spondyloepiphyseal Dysplasia Is a Form of Dominantly Inherited Dwarfism in Which