Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion

Pediatr Allergy Immunol. 2014 Dec;25(8):817-9. doi: 10.1111/pai.12285. Epub 2014 Oct 31.
No abstract available

Keywords: F-exon; Griscelli syndrome; MYO5A.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Exons / genetics
  • Food Hypersensitivity / diagnosis*
  • Food Hypersensitivity / genetics
  • Humans
  • Hypopigmentation / diagnosis*
  • Hypopigmentation / genetics
  • Infant
  • Male
  • Myosin Heavy Chains / genetics*
  • Myosin Type V / genetics*
  • Pedigree
  • Phenotype
  • Piebaldism / diagnosis*
  • Piebaldism / genetics
  • Pigmentation Disorders / diagnosis*
  • Pigmentation Disorders / genetics
  • Sequence Deletion / genetics
  • Turkey
  • rab GTP-Binding Proteins / genetics
  • rab27 GTP-Binding Proteins

Substances

  • Adaptor Proteins, Signal Transducing
  • MLPH protein, human
  • rab27 GTP-Binding Proteins
  • MYO5A protein, human
  • Myosin Type V
  • RAB27A protein, human
  • Myosin Heavy Chains
  • rab GTP-Binding Proteins

Supplementary concepts

  • Griscelli syndrome type 3