Long-term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat-D to E

Congenit Anom (Kyoto). 2019 May;59(3):102-103. doi: 10.1111/cga.12301. Epub 2018 Jul 17.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aortic Valve Stenosis / genetics*
  • Aortic Valve Stenosis / pathology
  • Aortic Valve Stenosis / surgery
  • Chromosomes, Human, Pair 22 / chemistry
  • Cleft Lip / genetics*
  • Cleft Lip / pathology
  • Cleft Lip / surgery
  • Cleft Palate / genetics*
  • Cleft Palate / pathology
  • Cleft Palate / surgery
  • DiGeorge Syndrome / genetics*
  • DiGeorge Syndrome / pathology
  • DiGeorge Syndrome / surgery
  • Humans
  • Male
  • Segmental Duplications, Genomic*
  • Transcatheter Aortic Valve Replacement