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

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

Abstract 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 i...

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Bibliographic Details
Main Authors: V. Thadchanamoorthy, M. T. R. Jayatunga, Kavinda Dayasiri, E. Jasinge, M. L. M. Jinnah, C. Pereira, V. Skrahina, Markandu Thirukumar
Format: Article
Language:English
Published: BMC 2021-02-01
Series:BMC Medical Genomics
Subjects:
Familial
Hemophagocytic lymphohistiocytosis
STXBP2 gene
Jaundice
Genetic counselling
Online Access:https://doi.org/10.1186/s12920-021-00897-z

Internet

https://doi.org/10.1186/s12920-021-00897-z

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