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  • Title: Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation.
    Author: Khalife H, Muwakkit S, Al-Moussawi H, Dabbous I, Khoury R, Peyvandi F, Abboud MR.
    Journal: Pediatr Blood Cancer; 2008 Jan; 50(1):113-4. PubMed ID: 16456856.
    Abstract:
    We report a novel mutation in factor XIIIA gene that caused severe congenital factor XIII deficiency in a 6 year and 8 month old male. The mutation is a GA deletion in the core domain leading to a premature stop at codon 502. The child had severe deficiency with two episodes of intracerebral hemorrhage. He also developed spontaneous splenic rupture, an unusual complication of this disorder.
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