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Results 1 - 6 of 6 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. COL2A1 gene 
    ... caused by variants in the COL2A1 gene is spondyloepiphyseal dysplasia, Stanescu type (SEDSTN). This condition is characterized by the tightening ... in the knees, hips, and fingers. Individuals with spondyloepiphyseal dysplasia, ... type typically have joint pain and difficulties walking. Additional ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  3. 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
  4. 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
  5. Hypochondrogenesis 
    ... the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related but milder disorder that similarly affects bone development. Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal disorder) together affect 1 ...
    https://medlineplus.gov/genetics/condition/hypochondrogenesis - Genetics
  6. 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