1.
Pediatr Blood Cancer
; 50(1): 113-4, 2008 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16456856
RESUMO
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.