Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

Julia Pagel, Karin Beutel, Kai Lehmberg, Florian Koch, Andrea Maul-Pavicic, Anna Katharina Rohlfs, Abdullah Al-Jefri, Rita Beier, Lilian Bomme Ousager, Karoline Ehlert, Ute Gross-Wieltsch, Norbert Jorch, Bernhard Kremens, Arnulf Pekrun, Monika Sparber-Sauer, Ester Mejstrikova, Angela Wawer, Stephan Ehl, Udo Zur Stadt, Gritta Janka*

*Corresponding author for this work
89 Citations (Scopus)

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Medicine & Life Sciences