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Pediatr Blood Cancer. 2008 Jan;50(1):113-4.

Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation.

Author information

1
Children's Cancer Center of Lebanon and Department of Pediatrics, American University of Beirut-Medical Center, Beirut, Lebanon.

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.

PMID:
16456856
DOI:
10.1002/pbc.20786
[Indexed for MEDLINE]

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