Article
Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jul 2018
Kader Sebnem, Mutlu Mehmet, Acar Filiz Akturk, Aslan Yakup, Bahadir Aysenur
Abstract excerpt
OBJECTIVE: Herein, a neonate with congenital FVII deficiency is presented. BASIC METHOD: Diagnosis of congenital FVII deficiency was confirmed by genetic analysis using next-generation sequencing method (MiSeq-Illumina). RESULT: Our patient was found to have a novel homozygous mutation. CONCLUSION: Early diagnosis and treatment of congenital FVII deficiency can be crucial.
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