Article
Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis.
BMC medical genomics - 16 Feb 2021
Thadchanamoorthy V, Jayatunga M T R, Dayasiri Kavinda, Jasinge E, Jinnah M L M, Pereira C, Skrahina V, Thirukumar Markandu
Abstract excerpt
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 gene are linked to FHL type 5 (FHL-5). CASE PRESENTATION: We report a Sri Lankan neonate who presented with low...
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