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Spotlight on Warsaw Breakage Syndrome
Warsaw breakage syndrome (WABS) is a very rare recessive hereditary disease caused by mutations in the gene coding for the DNA helicase DDX11, involved in genome stability maintenance and sister cohesion establishment. Typical clinical features observed in WABS patients include growth retardation, f...
Autor principal: | Pisani, Francesca M |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6901054/ https://www.ncbi.nlm.nih.gov/pubmed/31824187 http://dx.doi.org/10.2147/TACG.S186476 |
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