Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.
Barbara PreislerBehnaz PezeshkpoorAtanas BanchevRonald FischerBarbara ZiegerUte ScholzHeiko RühlBettina Kemkes-MatthesUrsula SchmittRedlich AntjeSule UnalHans-Jürgen LawsMartin OlivieriJohannes OldenburgAnna PavlovaPublished in: Journal of clinical medicine (2021)
FMCFDs are heritable abnormalities of hemostasis with a very low population frequency rendering them orphan diseases. A combination of comprehensive screening of residual activities and molecular genetic analysis could avoid under- and misdiagnosis.