Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype i...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Associação Brasileira de Divulgação Científica
2008-10-01
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Series: | Brazilian Journal of Medical and Biological Research |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008001000002 |