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Article

Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Oct 2008

Meschede I P, Santos T O, Izidoro-Toledo T C, Gurgel-Gianetti J, Espreafico E M

Abstract excerpt

Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype is restricted to the pigmentation dysfunction, GS1 patients also show primary neurological impairment and GS2...

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Source

Identifiers

PMID: 19030707
DOI: 10.1590/s0100-879x2008001000002

Genes

MLPH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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