Associated Papers
Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19.
Pournami F et al.
Journal of Pediatric Genetics, 2020
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Dhekne HS et al.
Human Mutation, 2018
29266534 (PubMed )
Supplement: HUMU-39-333-s002.docx
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).
Pagel J et al.
Blood, 2012
Permanent neonatal diabetes caused by a novel mutation.
Jain V et al.
Indian Pediatrics, 2012
Novel STXBP2 mutation causing familial hemophagocytic lymphohistiocytosis.
Jain R et al.
Indian Pediatrics, 2012
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