Griscelli syndrome
Definition:
References:
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[1]. E Pastural, et al. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet. 1997 Jul;16(3):289-92. [Content Brief]
[2]. G Ménasché, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet. 2000 Jun;25(2):173-6. [Content Brief]
[3]. Gaël Ménasché, et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest. 2003 Aug;112(3):450-6. [Content Brief]
[4]. Megan S Lim, et al. The molecular pathology of primary immunodeficiencies. J Mol Diagn. 2004 May;6(2):59-83. [Content Brief]
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