KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review

Pediatr Neonatol. 2023 Jan;64(1):91-92. doi: 10.1016/j.pedneo.2022.06.005. Epub 2022 Jul 31.
No abstract available

Publication types

  • Review
  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Face
  • Hematologic Diseases*
  • Humans
  • Male
  • Mutation
  • Taiwan
  • Vestibular Diseases* / diagnosis
  • Vestibular Diseases* / genetics

Supplementary concepts

  • Kabuki syndrome