Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).

@article{Menasche2003GriscelliSR,
  title={Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).},
  author={Ga{\"e}l Menasche and Chen Hsuan Ho and Ozden Sanal and J{\'e}r{\^o}me Feldmann and I. Tezcan and F{\"u}gen Ersoy and Anne Houdusse and Alain Fischer and Genevi{\`e}ve de Saint Basile},
  journal={The Journal of clinical investigation},
  year={2003},
  volume={112 3},
  pages={450-6}
}
Griscelli syndrome (GS) is a rare autosomal recessive disorder that associates hypopigmentation, characterized by a silver-gray sheen of the hair and the presence of large clusters of pigment in the hair shaft, and the occurrence of either a primary neurological impairment or a severe immune disorder. Two different genetic forms, GS1 and GS2, respectively, account for the mutually exclusive neurological and immunological phenotypes. Mutations in the gene encoding the molecular motor protein… CONTINUE READING

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