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- W2473312211 abstract "First described in 1978, Griscelli syndrome (GS) is a rare autosomal recessive disorder featuring pigmentary dilution of hair and skin.1 GS is caused by mutations in any of three genes encoding a tripartite protein complex essential for melanosome transport.2 GS1 (MIM214450) presents as hypomelanosis with primary neurological defects and is caused by mutations in MYO5A,3 and which also may be the same entity as Elejalde syndrome (MIM256710).4This article is protected by copyright. All rights reserved." @default.
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- W2473312211 date "2017-02-07" @default.
- W2473312211 modified "2023-10-01" @default.
- W2473312211 title "Further evidence for genotype-phenotype disparity in Griscelli syndrome" @default.
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- W2473312211 doi "https://doi.org/10.1111/bjd.14866" @default.
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