Familial hemophagocytic lymphohistiocytosis type 5 in a Chinese Tibetan patient caused by a novel compound heterozygous mutation in STXBP2
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
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1. Familial Hemophagocytic Lymphohistiocytosis Screening in Neonatal Sepsis;Journal of Pediatric Hematology/Oncology;2024-07-02
2. Novel STXBP2 Mutation Causing Familial Haemophagocytic Lymphohistiocytosis Type 5 in a Preterm Neonate with Fatal Outcome: A Case Report;JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH;2023
3. Adult-Onset Familial Hemophagocytic Lymphohistiocytosis Presenting with Annular Erythema following COVID-19 Vaccination;Vaccines;2022-08-31
4. Germline Compound Heterozygous Variants Identified in the STXBP2 Gene Leading to a Familial Hemophagocytic Lymphohistiocytosis Type 5: A Case Report;Frontiers in Pediatrics;2021-06-24
5. Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis;BMC Medical Genomics;2021-02-16
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