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Article

Diagnostic and therapeutic caveats in Griscelli syndrome.

Scandinavian journal of immunology - 1 Jun 2021

Castaño-Jaramillo Lina-Maria, Lugo-Reyes Saul O, Cruz Muñoz Mario E, Scheffler-Mendoza Selma C, Duran McKinster Carola, Yamazaki-Nakashimada Marco A, Espinosa-Padilla Sara E, Saez-de-Ocariz Gutierrez Maria Del Mar

Abstract excerpt

Griscelli syndrome (GS) is a rare autosomal recessive disease with characteristic pigment distribution, and there are currently 3 types according to the underlying genetic defect and clinical features. We present the case of a girl born from consanguineous parents who presented with predominant neurologic symptoms, silvery hair and granulomatous skin lesions. Cerebral magnetic resonance revealed diffuse white...

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Source

Identifiers

PMID: 33660295
DOI: 10.1111/sji.13034

Genes

RAB27A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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