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Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations
Authors:Marie Meeths MD  Yenan T. Bryceson PhD  Eva Rudd MD  PhD  Chengyun Zheng MD  PhD  Stephanie M. Wood PhD  Kim Ramme MD  PhD  Karin Beutel MD  Henrik Hasle MD  Carsten Heilmann MD  Kjell Hultenby PhD  Hans‐Gustaf Ljunggren MD  PhD  Bengt Fadeel MD  PhD  Magnus Nordenskjöld MD  PhD  Jan‐Inge Henter MD  PhD
Affiliation:1. Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden;2. Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Centre for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden;3. Department of Medicine, Karolinska Institutet, Centre for Infectious Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden;4. Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia;5. Paediatric Haematology and Oncology, University Medical Centre Hamburg‐Eppendorf, Hamburg, Germany;6. Department of Paediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark;7. Paediatric Clinic II, Section 4064, Copenhagen University Hospital, Copenhagen, Denmark;8. Department of Laboratory Medicine, Karolinska Institutet, Clinical Research Centre, Karolinska University Hospital Huddinge, Stockholm, Sweden;9. Division of Molecular Toxicology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
Abstract:
Keywords:albinism  Griscelli syndrome type 2  haemophagocytic lymphohistiocytosis  haemophagocytic syndrome  RAB27A
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