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Article

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.

Molecular genetics and metabolism - 1 Sept 2010

Vincent Lisa M, Gilbert Fred, DiPace Jennifer I, Ciccone Carla, Markello Thomas C, Jeong Andrew, Dorward Heidi, Westbroek Wendy, Gahl William A, Bussel James B, Huizing Marjan

Abstract excerpt

Griscelli syndrome (GS), a rare autosomal recessive disorder characterized by partial albinism and immunological impairment and/or severe neurological impairment, results from mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes. We identified a Hispanic patient born of a consanguineous union who presented with immunodeficiency, partial albinism, hepatic dysfunction, hemophagocytosis, neurological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20591709
DOI: 10.1016/j.ymgme.2010.05.015
PMCID: PMC2922439

Genes

MLPH

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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