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Results 1 - 7 of 7 for Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Did you mean pseudoachondroplasia spondyloepiphyseal dysplasia syndrome?
  1. Pseudoachondroplasia 
    ... the disorder in their family. PSACH Pseudoachondroplastic dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Genetic Testing Registry: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Pseudoachondroplasia ...
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia - Genetics
  2. COMP gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  3. Multiple epiphyseal dysplasia 
    ... 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 ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics
  4. COL9A2 gene 
    ... 10. Citation on PubMed Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  5. COL9A3 gene 
    ... COL9A3 NCBI Gene ClinVar Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, ...
    https://medlineplus.gov/genetics/gene/col9a3 - Genetics
  6. COL9A1 gene 
    ... 3. Citation on PubMed Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  7. MATN3 gene 
    ... MATN3 NCBI Gene ClinVar Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, ...
    https://medlineplus.gov/genetics/gene/matn3 - Genetics