Heterozygous large deletion mimicking homozygous substitution in MCFD2 in a patient with combined Factor V and Factor VIII deficiency.

Hamdi ReziguePierre ChamouniMathilde FretignyVirginie BarbayVéronique Le Cam-DuchezVictor BobeeSimon LanneCecile DumesnilChristine VinciguerraPascale SchneiderYohann Jourdy

Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2024)

Keyphrases

case report
early onset