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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...

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Detalles Bibliográficos
Autor principal: Pisani, Francesca M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2019
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