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Results 1 - 9 of 9 for Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
  1. ... the disorder in their family. PSACH Pseudoachondroplastic dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Genetic Testing Registry: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Pseudoachondroplasia ...
  2. ... COMP gene have been identified in individuals with pseudoachondroplasia. One particular mutation is found in approximately 30 ... protein.Mutations in the COMP gene that cause pseudoachondroplasia also result in the buildup of COMP protein ...
  3. Pseudoachondroplasia (For Parents) (Nemours Foundation)  
    Bone Diseases/Children ... Bone Diseases ... Nemours Foundation
  4. ... article on PubMed Central Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, ... article on PubMed Central Unger S, Hecht JT. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. Am ...
  5. 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 ...
  6. ... 3. Citation on PubMed Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, ...
  7. ... 10. Citation on PubMed Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, ...
  8. ... MATN3 NCBI Gene ClinVar Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, ...
  9. ... COL9A3 NCBI Gene ClinVar Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, ...