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  • Human GDF5 wild-type allele is located in the vicinity of 20q11.2 and is approximately 5 kb in length. This allele, which encodes growth/differentiation factor 5 protein, is involved in skeletal development. Mutations in the gene produce variants that are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type.
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