Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis

OBJECTIVES: Hemophagocytic lymphohistiocytosis (HLH) is a clinical syndrome characterized by a life-threatening condition caused by severe hypercytokinemia. The hereditary forms of HLH, also called familial HLH (fHLH), have 4 different genes (PRF1, UNC13D, STX11, and STXBP2) and have been identified...

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Detalles Bibliográficos
Autores principales: Park, Jong Eun, Lee, Taeheon, Ha, Kyeongsu, Cho, Eun Hye, Ki, Chang-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9692074/
https://www.ncbi.nlm.nih.gov/pubmed/36440336
http://dx.doi.org/10.3389/fped.2022.975665

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9692074/
https://www.ncbi.nlm.nih.gov/pubmed/36440336
http://dx.doi.org/10.3389/fped.2022.975665

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