Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report.

Mansour S AljabryAljoud AlgazlanNouf AlsubaieShatha Bin DherHassan Semar AljabriGhazi S Alotaibi

Published in: Journal of medical case reports (2023)

F12 (5:176,830,269 G>A; p.Gly506Asp) variant is likely to be a pathogenic variant among homozygous factor XII-deficient patients. Genetic counseling and management of the patients and families should be based on clinical evaluation.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
prognostic factors
peritoneal dialysis
clinical evaluation
early onset
dna methylation
human immunodeficiency virus
genome wide
autism spectrum disorder
hiv infected
antiretroviral therapy
replacement therapy