Article

Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich Syndrome/X-linked thrombocytopenia

2024-01-31

Abstract excerpt

Wiskott-Aldrich syndrome (WAS)/X-linked thrombocytopenia (XLT) is a rare X-linked disease characterized by thrombocytopenia, eczema, and recurrent infection. In addition, WAS/XLT increases incidence of autoimmune diseases and malignancies. We reported 7 male patients, 2 with WAS and 5 with XLT, from 6 different families. Two novel mutations, p.Gly387GlufsTer58 and p.Ala134Asp, were identified in patients with WAS....

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Literature Corpus work: ce1f6f24-b6be-5e37-b76f-48899ef0841a
DOI: 10.22541/au.170666816.61901198/v1

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