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Results 1 - 10 of 21 for Epiphyseal dysplasia
  1. Multiple epiphyseal dysplasia 
    Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics
  2. Multiple Epiphyseal Dysplasia (For Parents) (Nemours Foundation)  
    Genetic Disorders/Children ... Genetic Disorders ... Connective Tissue Disorders/Children ... Connective Tissue Disorders ... Bone Diseases/Children ... Bone Diseases ... Nemours Foundation
    https://kidshealth.org/en/parents/multiple-epiphyseal-dysplasia.html - External Health Links
  3. COMP gene 
    ... in the COMP gene that cause dominant multiple epiphyseal dysplasia have been identified. This disorder can also be ... in the COMP gene that cause dominant multiple epiphyseal dysplasia change one protein building block (amino acid) or ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  4. COL9A2 gene 
    ... gene have been shown to cause dominant multiple epiphyseal dysplasia, a disorder of cartilage and bone development that ... cause the signs and symptoms of dominant multiple epiphyseal dysplasia. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  5. SLC26A2 gene 
    ... gene have been found in people with multiple epiphyseal dysplasia, a disorder of cartilage and bone development that ... other birth defects.Mutations that cause recessive multiple epiphyseal dysplasia typically replace one amino acid with another amino ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  6. COL9A1 gene 
    ... gene has been found to cause dominant multiple epiphyseal dysplasia, a disorder of cartilage and bone development that ... causes the signs and symptoms of dominant multiple epiphyseal dysplasia. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  7. COL9A3 gene 
    ... gene have been shown to cause dominant multiple epiphyseal dysplasia. All of these mutations disrupt how genetic information ... cause the signs and symptoms of dominant multiple epiphyseal dysplasia.All identified mutations in type IX collagen delete ...
    https://medlineplus.gov/genetics/gene/col9a3 - Genetics
  8. MATN3 gene 
    ... shown to cause a mild form of multiple epiphyseal dysplasia. All of the mutations change one protein building ... ClinVar Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype ...
    https://medlineplus.gov/genetics/gene/matn3 - Genetics
  9. 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
  10. All about Genetics (For Parents) (Nemours Foundation)  
    ... CD1Hypochondroplasia, CD1Kniest Dysplasia, CD1Metatropic Dysplasia, CD1Morquio Syndrome, CD1Multipule Epiphyseal Dysplasia, CD1Primordial Dwarfism, CD1Pseudoachondroplasia, CD1Spondylo-Epiphyseal Dysplasia, CD1Thanatophoric Dysplasia
    https://kidshealth.org/en/parents/about-genetics.html - External Health Links
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