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Results 1 - 7 of 7 for Spondyloepiphyseal "dysplasia," nishimura type
  1. CHST3-related skeletal dysplasia 
    ... type Genetic Testing Registry: Larsen-like ... Rossi A, Perez-Aytes A, Cortina H, Bonafe L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A. ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  2. Spondyloepiphyseal dysplasia congenita 
    ... SEDc SEDC Spondyloepiphyseal dysplasia congenita (SEDC), COL2A1-related Spondyloepiphyseal dysplasia, congenital type Genetic Testing Registry: Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia ...
    https://medlineplus.gov/.../spondyloepiphyseal-dysplasia-congenita - Genetics
  3. Spondyloepiphyseal dysplasia with marked metaphyseal changes 
    ... F, Parron-Pajares M, Heath KE, Sousa AB. Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of ...
    https://medlineplus.gov/...dysplasia-with-marked-metaphyseal-changes - Genetics
  4. TRPV4 gene 
    ... mutations include autosomal dominant brachyolmia; spondylometaphyseal dysplasia, Kozlowski type; spondyloepiphyseal dysplasia, Maroteaux type; and parastremmatic dysplasia. These related conditions ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  5. CHST3 gene 
    ... K, Celebi A, Mundlos S, Turkmen S. Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation ... Verbeke JI, Markie D, Sugahara K, Robertson SP. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. Am J Med ...
    https://medlineplus.gov/genetics/gene/chst3 - Genetics
  6. COL2A1 gene 
    ... 1 collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) Tests of COL2A1 PubMed COLLAGEN, TYPE II, ALPHA-1; COL2A1 NCBI Gene ClinVar Barat- ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  7. Pseudoachondroplasia 
    ... cell death and intracellular distribution of COMP and type IX collagen in the ... Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti- ...
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia - Genetics