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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.
Frequently asked queries:
What is COL2A1?
How does COL2A1 relate to skeletal disorders?
What are the symptoms of COL2A1-related disorders in children?
How are COL2A1 mutations diagnosed?
Are there any ongoing research or advancements?
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