Griscelli syndrome

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Epidemiology

rare

Pathology

Genetics

Clinical manifestations

  • pigmentary dilution of the skin & hair (hypomelanosis)
  • presence of large clumps of pigment in hair shafts
  • silvery-gray hair

More general terms

More specific terms

Additional terms

References

  1. Pastural E et al Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nature Genetics 16:289-92, 1997 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9207796
  2. OMIM https://mirror.omim.org/entry/214450
  3. OMIM https://mirror.omim.org/entry/607624