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Results 1 - 4 of 4 for Spondylometaphyseal dysplasia
  1. Spondyloepimetaphyseal dysplasia, Strudwick type 
    ... SMED, type I Spondylometaepiphyseal dysplasia congenita, Strudwick type Spondylometaphyseal dysplasia (SMD) Strudwick syndrome Genetic Testing Registry: Spondyloepimetaphyseal dysplasia, ...
    https://medlineplus.gov/...loepimetaphyseal-dysplasia-strudwick-type - Genetics
  2. TRPV4 gene 
    ... with TRPV4 gene mutations include autosomal dominant brachyolmia; spondylometaphyseal dysplasia, Kozlowski type; spondyloepiphyseal dysplasia, Maroteaux type; and parastremmatic ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  3. Spondyloenchondrodysplasia with immune dysregulation 
    ... of the condition. Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia Roifman-Melamed syndrome Roifman–Costa syndrome SPENCDI Genetic ...
    https://medlineplus.gov/...hondrodysplasia-with-immune-dysregulation - Genetics
  4. Metatropic dysplasia 
    ... encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum ...
    https://medlineplus.gov/genetics/condition/metatropic-dysplasia - Genetics