Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis

BACKGROUND: Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous autosomal recessive hyper-inflammatory syndrome which needs early accurate diagnosis and appropriate treatment to prevent complications and early mortality. Recently, it was reported that mutations in STXBP2...

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Detalles Bibliográficos
Autores principales: Thadchanamoorthy, V., Jayatunga, M. T. R., Dayasiri, Kavinda, Jasinge, E., Jinnah, M. L. M., Pereira, C., Skrahina, V., Thirukumar, Markandu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7885387/
https://www.ncbi.nlm.nih.gov/pubmed/33593331
http://dx.doi.org/10.1186/s12920-021-00897-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7885387/
https://www.ncbi.nlm.nih.gov/pubmed/33593331
http://dx.doi.org/10.1186/s12920-021-00897-z

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