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

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

BLOOD COAGULATION & FIBRINOLYSIS, no.5, pp.476-480, 2018 (SCI-Expanded)

• Publication Type: Article / Article
• Publication Date: 2018
• Doi Number: 10.1097/mbc.0000000000000748
• Journal Name: BLOOD COAGULATION & FIBRINOLYSIS
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.476-480
• Karadeniz Technical University Affiliated: Yes

Abstract

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.