A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds [research letter].

We report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds with features of Wiskott-Aldrich syndrome.

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Publication Details

Journal
Open Access CRIS of the University of Bern
Published
2025-11-28
DOI
https://doi.org/10.48620/92713
Primary Topic
Cellular Mechanics and Interactions
Type
article
Field-Weighted Citation Impact
0.00
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article

A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds [research letter].

Open Access CRIS of the University of Bern
Cellular Mechanics and Interactions
article

A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds [research letter].

article en

Abstract

We report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds with features of Wiskott-Aldrich syndrome.

Open Access CRIS of the University of Bern
General Department of Preventive Medicine (VN)
Gender equality
Openalex Percentile: Top 39%
Cellular Mechanics and Interactions
DOIOpen Access PDFOpenAlex
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A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds [research letter]. · Open Access CRIS of the University of Bern (2025) | TGRS Research Map | TGRS