Short stature, dysostosis multiplex and storage disorder: mucolipidosis II

BMJ Case Rep. 2023 Oct 4;16(10):e256434. doi: 10.1136/bcr-2023-256434.
No abstract available

Keywords: congenital disorders; genetics.

Publication types

  • Case Reports

MeSH terms

  • Dwarfism*
  • Dysostoses*
  • Humans
  • Metabolic Diseases*
  • Mucolipidoses* / diagnosis
  • Mucolipidoses* / diagnostic imaging