Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure

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...

Full description

Bibliographic Details
Main Authors: I.P. Meschede, T.O. Santos, T.C. Izidoro-Toledo, J. Gurgel-Gianetti, E.M. Espreafico
Format: Article
Language:English
Published: Associação Brasileira de Divulgação Científica 2008-10-01
Series:Brazilian Journal of Medical and Biological Research
Subjects:
Griscelli syndrome
RAB27A
Hemophagocytic lymphohistiocytosis
Cerebellitis
Immunodeficiency
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008001000002

Internet

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008001000002

Similar Items