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Results 1 - 10 of 10 for Epiphyseal dysplasia
  1. 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). ...
  2. ... 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 ...
  3. ... 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 ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... 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 ...
  7. ... 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 ...
  8. ... most common bone changes are metaphyseal dysplasia and epiphyseal dysplasia; these are malformations of the ends of long ...
  9. ... S, Zankl A, Briggs MD. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known ...
  10. ... Chondrodystrophy with sensorineural deafness Insley-Astley syndrome Mega-epiphyseal dwarfism Nance-Insley syndrome Nance-Sweeney chondrodysplasia OSMED Oto-spondylo-megaepiphyseal dysplasia Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia, autosomal dominant Genetic ...