Data di Pubblicazione:
2006
Citazione:
Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation / H. Khalife, S. Muwakkit, H. Al-Moussawi, I. Dabbous, R. Khoury, F. Peyvandi, M.R. Abboud. - In: PEDIATRIC BLOOD & CANCER. - ISSN 1545-5009. - 50:1(2006 Feb 02), pp. 113-114.
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
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
H. Khalife, S. Muwakkit, H. Al-Moussawi, I. Dabbous, R. Khoury, F. Peyvandi, M.R. Abboud
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