Clinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): A systematic review.

Parisa AmirifarMohammad Reza RanjouriHassan AbolhassaniTannaz Moeini ShadAmir Almasi-HashianiGholamreza AziziSoraya MoamerAsghar Aghamohammadi Reza Yazdani

Published in: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology (2020)

FHL3 patients have a wide range of clinical manifestations, which makes it difficult to diagnose. Therefore, it seems that the sequencing of the entire UNC13D gene (coding and non-coding regions) is the most appropriate way to accurate diagnosis of FHL3 patients.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
genome wide
gene expression
dna methylation
patient reported outcomes
copy number
mass spectrometry
high resolution