Associated Papers
Hematopoietic stem cell transplantation in children with Griscelli syndrome type 2: a single-center report on 35 patients.
Al-Mofareh M et al.
Bone Marrow Transplantation, 2020
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
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Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
Meeths M et al.
Pediatric Blood & Cancer, 2010
Griscelli syndrome: a model system to study vesicular trafficking.
Van Gele M et al.
Pigment Cell & Melanoma Research, 2009
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.
Meschede IP et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2008
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.
Westbroek W et al.
Molecular Genetics and Metabolism, 2008
Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly.
Rajadhyax M et al.
Brain & Development, 2007
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