Microvillus inclusion disease with novel MYO5B pathogenic variants

Histopathology. 2021 Jul;79(1):119-121. doi: 10.1111/his.14348. Epub 2021 Apr 14.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • DNA Mutational Analysis
  • Female
  • Genetic Counseling
  • Humans
  • Inclusion Bodies
  • Infant, Newborn
  • Malabsorption Syndromes / diagnosis*
  • Malabsorption Syndromes / pathology*
  • Microvilli / pathology*
  • Mucolipidoses / diagnosis*
  • Mucolipidoses / pathology*
  • Mutation
  • Myosin Heavy Chains / classification*
  • Myosin Heavy Chains / genetics*
  • Myosin Type V / classification*
  • Myosin Type V / genetics*

Substances

  • MYO5B protein, human
  • Myosin Type V
  • Myosin Heavy Chains

Supplementary concepts

  • Microvillus inclusion disease