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

ConclusionF12 (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.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research