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Results 1 - 10 of 12 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. Pseudoachondroplasia (For Parents) (Nemours Foundation)  
    Bone Diseases/Children ... Bone Diseases ... Nemours Foundation ... pseudoachondroplasia, dwarfism, cartilage-hair hypoplasia, hypochondroplasia, pseudoachondroplasia, ...
    https://kidshealth.org/en/parents/pseudoachondroplasia.html - External Health Links
  3. 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
  4. 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
  5. Dwarfism (For Parents) (Nemours Foundation)  
    dwarfism, cartilage-hair hypoplasia, hypochondroplasia, pseudoachondroplasia, campomelic dysplasia, primordial dwarfism, achondroplasia, metatropic dysplasia, kniest dysplasia, multiple epiphyseal dysplasia, ellis-van creveld dysplasia, diastrophic dysplasia, skeletal dysplasia, hypoplasia, ...
    https://kidshealth.org/en/parents/dwarfism.html - External Health Links
  6. Hypochondroplasia (For Parents) (Nemours Foundation)  
    ... cartilage, skeletal problems, dwarfism, cartilage-hair hypoplasia, hypochondroplasia, pseudoachondroplasia, campomelic dysplasia, primordial dwarfism, achondroplasia, metatropic dysplasia, kniest ...
    https://kidshealth.org/en/parents/hypochondroplasia.html - External Health Links
  7. Achondroplasia (For Parents) (Nemours Foundation)  
    ... cartilage, skeletal problems, dwarfism, cartilage-hair hypoplasia, hypochondroplasia, pseudoachondroplasia, campomelic dysplasia, primordial dwarfism, achondroplasia, metatropic dysplasia, kniest ...
    https://kidshealth.org/en/parents/achondroplasia.html - External Health Links
  8. 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 ...
    https://medlineplus.gov/bonediseases.html - Health Topics
  9. 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
  10. 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
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