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...

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Bibliographic Details
Main Authors: Abdullah A Baothman, Fatima Mehdawi, Loie Goronfolah, Hani Almalki
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2019-01-01
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