Further evidence for genotype-phenotype disparity in Griscelli syndrome

Br J Dermatol. 2017 Apr;176(4):1086-1089. doi: 10.1111/bjd.14866. Epub 2017 Feb 7.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Diagnosis, Differential
  • Exons / genetics
  • Female
  • Genotype
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / genetics*
  • Lymphohistiocytosis, Hemophagocytic / diagnosis
  • Lymphohistiocytosis, Hemophagocytic / genetics*
  • Mutation / genetics*
  • Phenotype
  • Piebaldism / diagnosis
  • Piebaldism / genetics*
  • Pigmentation Disorders / diagnosis
  • Pigmentation Disorders / genetics*
  • Primary Immunodeficiency Diseases
  • RNA Splice Sites / genetics
  • rab27 GTP-Binding Proteins / genetics*

Substances

  • RNA Splice Sites
  • rab27 GTP-Binding Proteins
  • RAB27A protein, human

Supplementary concepts

  • Griscelli syndrome type 1
  • Griscelli syndrome type 2