diastrophic dysplasia genereview
Diastrophic Dysplasia, also known as Diastrophic Dwarfism, is a rare genetic condition that affects bone and cartilage development. Genetic Mutation Diastrophic Dysplasia is caused by a mutation in the SLC26A2 gene, which is responsible for producing a protein that helps build and maintain cartilage. Inheritance Diastrophic Dysplasia is inherited in an autosomal recessive manner, meaning […]
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