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Results 1 - 5 of 5 for Diastrophic dysplasia
  1. Diastrophic dysplasia 
    Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early- ...
    https://medlineplus.gov/genetics/condition/diastrophic-dysplasia - Genetics
  2. SLC26A2 gene 
    ... gene mutations have been identified in people with diastrophic dysplasia. This disorder of cartilage and bone development has ... those of atelosteogenesis type 2 (described above), although diastrophic dysplasia tends to be less severe. Like people with ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  3. Atelosteogenesis type 2 
    ... similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. ... type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2 - Genetics
  4. Achondrogenesis 
    ... Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, ... type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet. 1996 Jan;12( ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  5. Multiple epiphyseal dysplasia 
    ... Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics