Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children – a case report with a review

被引:0
作者
Jayesh Sheth
Akash Patel
Raju Shah
Riddhi Bhavsar
Sunil Trivedi
Frenny Sheth
机构
[1] FRIGE’s Institute of Human Genetics,
[2] FRIGE House,undefined
[3] Ankur Institute of Child Health,undefined
[4] Behind City Gold Cinema,undefined
来源
BMC Pediatrics | / 19卷
关键词
Case report; Hemophagocytic Lymphohistiocytosis; HLH; Next generation sequencing; Carrier status;
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