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Chondrodysplasia

General

Disease Name
Chondrodysplasia
Mutation
g.33710178_33710179insMF040221
Test Type
Other Genetic Traits
Details
Chondrodysplasia is a catagory of skeletal dysplasia leading to abnormal growth of cartilage, resulting in distinct dwarf characteristics. Even though Chondrodysplasia is normally regarded as a defect in not-short breeds, this canine mutation is not always classified as a defect, but as a short-legged phenotype that defines at least 19 dog breeds including Dachshund, Corgi, and Basset Hound.
Details 2
Chondrodysplasia is a catagory of skeletal dysplasia leading to abnormal growth of cartilage, resulting in distinct dwarf characteristics. Even though chondrodysplasia is normally regarded as a defect in not-short breeds, this canine mutation is not always classified as a defect, but as a short-legged phenotype that defines at least 19 dog breeds including Dachshund, Corgi, and Basset Hound. However, this form of dwarfism can come with increased risk of developing IVDD, ADIP/AD for IVDD risk
Published
Parker, HG., Vonholdt, BM., Quignon, P., Margulies, EH., Shao, S., Mosher, DS., Spady, TC., Elkahloun, A., Cargill, M., Jones, PG., Maslen, CL., Acland, GM., Sutter, NB., Kuroki, K., Bustamante, CD., Wayne, RK., Ostrander, EA. : An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science 325:995-8, 2009. Pubmed reference: 19608863. DOI: 10.1126/science.1173275.
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