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QuickView for skeletal dysplasia (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. COL2A1
  2. LRP5
  3. RMRP
  4. COL1A1
  5. GDF5
  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. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) study
  2. Mouse Phenotypes - Epiphyseal dysplasia
  3. Mouse Phenotypes - Autosomal hereditary disorder
  4. Mouse Phenotypes - Achondrogenesis
  5. Mouse Phenotypes - Dysostosis multiplex group
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Literature

Most Relevant Literature

  1. Fetal Skeletal Dysplasia.
  2. Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 g…
  3. Challenges of Uncertainty in Prenatal Decision-Making: Skeletal Dysplasias.
  4. What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer.
  5. DESMISTIFYING SKELETAL DYSPLASIAS: A PRACTICAL APPROACH FOR THE PEDIATRIC ENDOCRINOLOGIST.
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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. Decoding the Genetic Landscape of Skeletal Diseases
  5. Study of Skeletal Disorders and Short Stature
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