Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate


KADER Ş. , MUTLU M. , Acar F. A. , ASLAN Y. , BAHADIR A.

BLOOD COAGULATION & FIBRINOLYSIS, cilt.29, ss.476-480, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 29 Konu: 5
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1097/mbc.0000000000000748
  • Dergi Adı: BLOOD COAGULATION & FIBRINOLYSIS
  • Sayfa Sayıları: ss.476-480

Özet

ObjectiveHerein, a neonate with congenital FVII deficiency is presented.Basic methodDiagnosis of congenital FVII deficiency was confirmed by genetic analysis using next-generation sequencing method (MiSeq-Illumina).ResultOur patient was found to have a novel homozygous mutation.ConclusionEarly diagnosis and treatment of congenital FVII deficiency can be crucial.