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Results 1 - 10 of 10 for Multiple epiphyseal dysplasia 1
  1. Multiple epiphyseal dysplasia 
    ... Registry: Epiphyseal dysplasia, multiple, 6 Genetic Testing Registry: Multiple epiphyseal dysplasia type 1 Genetic Testing Registry: Multiple epiphyseal dysplasia type 4 ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics
  2. COMP gene 
    ... This Health Condition cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple) COMP_HUMAN EDM1 EPD1 MED PSACH pseudoachondroplasia (epiphyseal ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  3. COL9A1 gene 
    ... COL9A1 causes the signs and symptoms of dominant multiple epiphyseal dysplasia. More About This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition alpha 1 type IX collagen cartilage-specific short collagen collagen ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  4. SLC26A2 gene 
    ... the less severe signs and symptoms of recessive multiple epiphyseal dysplasia. More About This Health Condition ... PubMed SOLUTE CARRIER ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  5. Pseudoachondroplasia 
    ... Unger S, Zankl A, Briggs MD. Pseudoachondroplasia and multiple epiphyseal dysplasia: ... Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub ...
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia - Genetics
  6. COL9A3 gene 
    ... 3 collagen, type IX, alpha 3 DJ885L7.4.1 EDM3 FLJ90759 IDD Tests of COL9A3 PubMed COLLAGEN, TYPE IX, ALPHA-3; COL9A3 NCBI Gene ClinVar Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype ...
    https://medlineplus.gov/genetics/gene/col9a3 - Genetics
  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 ...
    https://medlineplus.gov/bonediseases.html - Health Topics
  8. COL9A2 gene 
    ... COL9A2 gene have been shown to cause dominant multiple epiphyseal dysplasia, a disorder of cartilage and bone development that ... COL9A2 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
  9. MATN3 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/matn3 - Genetics
  10. Achondroplasia 
    ... of a group of conditions called chondrodystrophies or osteochondrodysplasias. These rare genetic disorders cause problems with the ...
    https://medlineplus.gov/ency/article/001577.htm - Medical Encyclopedia