RAB27A mutation in a patient with griscelli syndrome type 2, successfully cured by hematopoietic stem cell transplantation: Sustained remission
Griscelli syndrome (GS) is a rare autosomal recessive disorder. It features with clinical constellation of skin hypopigmentation, silvery-gray hair, associated with neurological involvement (type I), or defective cell-mediated immunity with hemophagocytosis (type II) that leads to recurrent infectio...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2019-01-01
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Series: | Journal of Applied Hematology |
Subjects: | |
Online Access: | http://www.jahjournal.org/article.asp?issn=1658-5127;year=2019;volume=10;issue=3;spage=103;epage=105;aulast=Baothman |