col2a1

How does COL2A1 relate to skeletal disorders?

Mutations in the COL2A1 gene are responsible for several types of skeletal dysplasia, including Stickler syndrome, spondyloepiphyseal dysplasia (SED), and Kniest dysplasia. These conditions often manifest with a variety of symptoms such as short stature, joint problems, and distinctive facial features.

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What is COL2A1?
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