Genomic analysis of Kabuki syndrome with multiple abnormalities in infancy

Pediatr Int. 2023 Jan-Dec;65(1):e15641. doi: 10.1111/ped.15641.
No abstract available

Keywords: Kabuki syndrome; intestinal malrotation; lysine methyltransferase 2D (KMT2D); multiple morphological abnormalities; whole-exome sequencing.

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / genetics
  • Face
  • Genomics
  • Hematologic Diseases* / diagnosis
  • Hematologic Diseases* / genetics
  • Humans
  • Infant
  • Mutation
  • Phenotype
  • Vestibular Diseases* / diagnosis
  • Vestibular Diseases* / genetics

Supplementary concepts

  • Kabuki syndrome