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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

Clinical prediction guides

Human Genetics of Ventricular Septal Defect.
Perrot A, Rickert-Sperling S
Adv Exp Med Biol 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27. PMID: 38884729

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