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Results 1 - 10 of 10 for Multiple epiphyseal dysplasia 2
  1. ... Fairbank type Epiphyseal dysplasia, multiple, 1 Epiphyseal dysplasia, multiple, 2 Epiphyseal dysplasia, multiple, 3 Epiphyseal dysplasia, multiple, 4 Epiphyseal dysplasia, ...
  2. ... alpha 2 collagen, type IX, alpha 2 EDM2 epiphyseal dysplasia, multiple 2 Tests of COL9A2 PubMed COLLAGEN, TYPE IX, ALPHA- ...
  3. ... radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. Eur J Hum Genet. 2007 Feb;15(2):150-4. doi: 10.1038/sj.ejhg.5201744. ...
  4. ... the less severe signs and symptoms of recessive multiple epiphyseal dysplasia. More About This Health Condition diastrophic dysplasia sulfate transporter DTD DTDST EDM4 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 solute carrier family 26 (sulfate transporter), member 2 ...
  5. ... COL9A1 causes the signs and symptoms of dominant multiple epiphyseal dysplasia. More About This Health Condition ... PubMed COLLAGEN, TYPE ...
  6. ... been shown to cause a mild form of multiple epiphyseal dysplasia. All of the mutations change one protein building ... Gene ClinVar Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype ...
  7. Bone Diseases (National Library of Medicine)  
    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
  8. Genetic Disorders (National Library of Medicine)  
    ... disorder. Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment ...
  9. ... Unger S, Zankl A, Briggs MD. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known ...
  10. ... of a group of conditions called chondrodystrophies or osteochondrodysplasias. These rare genetic disorders cause problems with the ...