Associated Papers
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.
Maimaris J et al.
Journal of Clinical Immunology, 2024
39607447 (PubMed )
Supplement: 10875_2024_1842_MOESM1_ESM.docx
Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.
Tajik S et al.
Scandinavian Journal of Immunology, 2023
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
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
Select a paper to view details