slc26a2 gene mutation

What Conditions are Associated with SLC26A2 Gene Mutations?

Mutations in the SLC26A2 gene are linked to a group of disorders known as skeletal dysplasias, including diastrophic dysplasia, achondrogenesis type 1B, and atelosteogenesis type 2. These conditions are characterized by abnormal bone and cartilage development, leading to short stature, joint deformities, and other skeletal abnormalities.

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What is the SLC26A2 Gene?
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