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Griscelli syndrome type-3
Epidemiology: rare
Pathology:
- accumulation of melanosomes in melanocytes
Genetics:
- autosomal recessive
- associated with mutations in MLPH gene
- associated with mutations in MYO5A gene
Clinical manifestations:
- pigmentary dilution of the skin & hair
- large clumps of pigment in hair shafts
- without other clinical manifestations
General
Griscelli syndrome
Database Correlations
OMIM 609227
References
OMIM :accession 607624