A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome

Am J Med Genet A. 2022 Aug;188(8):2493-2496. doi: 10.1002/ajmg.a.62849. Epub 2022 May 24.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / genetics
  • Adult
  • DNA-Binding Proteins / genetics
  • Face / abnormalities
  • Hand Deformities, Congenital* / diagnosis
  • Hand Deformities, Congenital* / genetics
  • Humans
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / genetics
  • Micrognathism* / diagnosis
  • Micrognathism* / genetics
  • Neck / abnormalities
  • Transcription Factors / genetics

Substances

  • DNA-Binding Proteins
  • DPF2 protein, human
  • Transcription Factors

Supplementary concepts

  • Coffin-Siris syndrome