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Kleefstra syndrome due to a point mutation

MedGen UID:
1826146
•Concept ID:
C5680724
•
Disease or Syndrome
Monarch Initiative: MONDO:0016865
Orphanet: ORPHA261652

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Kleefstra syndrome due to a point mutation

Professional guidelines

PubMed

Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
Barili V, Ambrosini E, Uliana V, Bellini M, Vitetta G, Martorana D, Cannizzaro IR, Taiani A, De Sensi E, Caggiati P, Hilton S, Banka S, Percesepe A
Genes (Basel) 2023 Jun 10;14(6) doi: 10.3390/genes14061241. PMID: 37372421Free PMC Article

Recent clinical studies

Diagnosis

Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
Barili V, Ambrosini E, Uliana V, Bellini M, Vitetta G, Martorana D, Cannizzaro IR, Taiani A, De Sensi E, Caggiati P, Hilton S, Banka S, Percesepe A
Genes (Basel) 2023 Jun 10;14(6) doi: 10.3390/genes14061241. PMID: 37372421Free PMC Article

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    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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