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QuickView for skeletal dysplasia (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. COL2A1
  2. RMRP
  3. COL1A1
  4. GDF5
  5. SOST
  1. No SNPs found
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Pathway Enrichment

Most Correlated Biogroups

  1. ossification
  2. connective tissue development
  3. cartilage development
  4. limb morphogenesis
  5. collagen-containing extracellular matrix
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Curated Studies

Most Correlated Studies

  1. Chondrocyte gene expression in two mouse models of metaplasia chondrodysplasia
  2. Skin fibroblasts of Schimke immuno-osseous dysplasia cell lines with SMARCAL1 mutations
  3. Calvaria with Axin2 knockout and heterozygous Runx2
  4. Skin fibroblasts of patients with Ehlers-Danlos syndrome, type 3
  5. Renal proximal tubular cells from patients with or without Schimke immuno-osseous dysplasia
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Literature

Most Relevant Literature

  1. A primer on skeletal dysplasias.
  2. Changes in skeletal dysplasia nosology.
  3. Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.
  4. A novel FLNA variant in a fetus with skeletal dysplasia.
  5. Revisiting Skeletal Dysplasias in the Newborn.
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Clinical Trials

Most Relevant Clinical Trials

  1. Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skelet…
  2. Study of Denosumab for Prevention of Skeletal Disease Progression in Children With Fibrous Dysplasia
  3. Study of Skeletal Disorders
  4. Study of Skeletal Disorders and Short Stature
  5. Mild Hip Dysplasia
Explore Clinical Trials Results
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