Missense variant contribution to USP9X-female syndrome
نویسندگان
چکیده
منابع مشابه
Low Serum IgM Possible Female Variant of Wiskott-Aldrich Syndrome
Evans, D. I. K., and Holzel, A. (1970). Archives of Disease in Childhood, 45, 527. Immune deficiency state in a girl with eczema and low serum IgM. Possible female variant of Wiskott-Aldrich syndrome. This report concerns an immune deficiency disorder in a girl with eczema. She has had recurrent infections including three severe attacks of herpes simplex and five attacks of pneumococcal meningi...
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ژورنال
عنوان ژورنال: npj Genomic Medicine
سال: 2020
ISSN: 2056-7944
DOI: 10.1038/s41525-020-00162-9