what type of mutation is diastrophic dysplasia
Understanding Diastrophic Dysplasia: A Rare Genetic Mutation Diastrophic dysplasia is a rare genetic mutation that affects bone and cartilage development in the body. Causes and Symptoms This condition is caused by mutations in the SLC26A2 gene, which is responsible for producing a protein called DTDST. Symptoms of diastrophic dysplasia include short stature, abnormal curvature of […]
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