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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). ...
- Multiple Epiphyseal Dysplasia (For Parents) (Nemours Foundation)Connective Tissue Disorders/Children ... Connective Tissue Disorders ... Genetic Disorders/Children ... Genetic Disorders ... Bone Diseases/Children ... Bone Diseases ... Nemours Foundation
- ... 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 ...
- ... mutations in the COMP gene that cause dominant multiple epiphyseal dysplasia have been identified. This disorder can also be ... Mutations in the COMP gene that cause dominant multiple epiphyseal dysplasia change one protein building block (amino acid) or ...
- ... SLC26A2 gene have been found in people with multiple epiphyseal dysplasia, a disorder of cartilage and bone development that ... and other birth defects.Mutations that cause recessive multiple epiphyseal dysplasia typically replace one amino acid with another amino ...
- ... COL9A1 gene has been found to cause dominant multiple epiphyseal dysplasia, a disorder of cartilage and bone development that ... COL9A1 causes the signs and symptoms of dominant multiple epiphyseal dysplasia. More About This Health Condition MedlinePlus Genetics provides ...
- Osteochondrodysplasias (Merck & Co., Inc.)Osteochondrodysplasias - Learn about the causes, symptoms, diagnosis & treatment from the Merck Manuals - Medical Consumer Version.
- ... COL9A3 gene have been shown to cause dominant multiple epiphyseal dysplasia. All of these mutations disrupt how genetic information ... COL9A3 cause the signs and symptoms of dominant multiple epiphyseal dysplasia.All identified mutations in type IX collagen delete ...
- ... 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 ...
- 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 ...
