diastrophic dysplasia genetics home reference nih
Diastrophic Dysplasia: An Overview Diastrophic dysplasia is a rare skeletal disorder that affects bone growth and development. It is caused by mutations in the SLC26A2 gene, which provides instructions for making a protein that is essential for the normal development of cartilage and bone. Symptoms of Diastrophic Dysplasia Individuals with diastrophic dysplasia may have short […]
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