Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB

Clin Genet. 2022 Mar;101(3):377-378. doi: 10.1111/cge.14101. Epub 2021 Dec 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Duane Retraction Syndrome* / genetics
  • Ear, Inner*
  • Humans
  • MafB Transcription Factor / genetics
  • Pedigree
  • Phenotype

Substances

  • MAFB protein, human
  • MafB Transcription Factor