STXBP2 Deficiency
Publisher
Springer New York
Reference32 articles.
1. Bezdjian A, Bruijnzeel H, Pagel J, Daniel SJ, Thomeer HGXM. Low-frequency sensorineural hearing loss in familial hemophagocytic lymphohistiocytosis type 5. Ann Otol Rhinol Laryngol. 2018;127:409–13.
2. Brochetta C, Vita F, Tiwari N, et al. Involvement of Munc18 isoforms in the regulation of granule exocytosis in neutrophils. Biochim Biophys Acta (BBA) Mol Cell Res. 2008;1783:1781–91.
3. Brochetta C, Suzuki R, Vita F, et al. Munc18-2 and syntaxin 3 control distinct essential steps in mast cell degranulation. J Immunol. 2014;192:41.
4. Cetica V, Santoro A, Gilmour KC, et al. STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. J Med Genet. 2010;47:595.
5. Cetica V, Sieni E, Pende D, et al. Genetic predisposition to hemophagocytic lymphohistiocytosis: report on 500 patients from the Italian registry. J Allergy Clin Immunol. 2016;137:188–96.e4.