Seizure as the presenting manifestation in Griscelli syndrome type 2. [electronic resource]
Producer: 20160105Description: 535-8 p. digitalISSN:- 1873-5150
- Female
- Humans
- Immunologic Deficiency Syndromes -- complications
- Infant
- Lymphohistiocytosis, Hemophagocytic -- complications
- Magnetic Resonance Imaging
- Melanins -- metabolism
- Mutation -- genetics
- Piebaldism -- complications
- Primary Immunodeficiency Diseases
- Seizures -- etiology
- rab GTP-Binding Proteins -- genetics
- rab27 GTP-Binding Proteins
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Publication Type: Case Reports; Journal Article
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