Article
Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant.
European journal of medical genetics - 1 Aug 2022
Sero Leyla, Okur Nilufer, Yalcin Amed Diyar, Unal Aysel
Abstract excerpt
Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder caused by abnormal expression of the Wiskott-Aldrich syndrome protein due to WAS gene mutation, usually characterized by microthrombocytopenia, eczema, hematological malignancies, recurrent infections, and a high risk of autoimmune complications. In this report, we present a family presenting with severe intrauterine cranial hemorrhage....
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