Mucolipidosis Type IV Due to Novel MCOLN1 Mutation

Indian J Pediatr. 2017 Nov;84(11):871-872. doi: 10.1007/s12098-017-2401-6. Epub 2017 Jun 16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Biopsy
  • Child
  • Consanguinity
  • Diagnosis, Differential
  • Humans
  • India
  • Magnetic Resonance Imaging
  • Male
  • Mucolipidoses / diagnosis*
  • Mucolipidoses / genetics*
  • Mutation / genetics*
  • Transient Receptor Potential Channels / genetics*

Substances

  • MCOLN1 protein, human
  • Transient Receptor Potential Channels