Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5...
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)
About this item
Full title
Author / Creator
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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, respe...
Alternative Titles
Full title
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_inserm_02440362v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_inserm_02440362v1
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/jci18264
