A child with factor V deficiency with a novel F5 gene mutation misdiagnosed as a left iliac fossa abscess: A case report.

Abstract excerpt

RATIONALE: Congenital factor V deficiency is classified as a rare bleeding disorder that is expressed in an autosomal recessive manner and generally occurs in 1 in a million people. This disorder is accompanied by a variety of clinical manifestations, which can easily lead to misdiagnosis. This is the first report to identify the factor V gene variant c.2439delC (p.I814Lfs*23) in exon 13. PATIENT CONCERNS: A...

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