A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4

Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. Clinical features of the disease are highly varied; therefore, the diagnosis is sometimes difficult, especially in solitary cases or cases with milder forms of the disease. However,...

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Veröffentlicht in:	Turkish journal of pediatrics 2006-01, Vol.48 (1), p.66-68
Hauptverfasser:	Doğu, Figen, Ariga, Tadashi, Ikincioğullari, Aydan, Bozdoğan, Günseli, Aytekin, Caner, Metin, Ayşe, Babacan, Emel
Format:	Artikel
Sprache:	eng
Schlagworte:	Child, Preschool DNA Mutational Analysis Humans Male Wiskott-Aldrich Syndrome - genetics Wiskott-Aldrich Syndrome Protein - genetics
Online-Zugang:	Volltext
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