Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

Through exome sequencing we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, which are features of mosaic variegated aneuploidy (MVA) syndrome1,2, were mo...

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Detalhes bibliográficos
Publicado no:Nat Genet
Main Authors: Yost, Shawn, de Wolf, Bas, Hanks, Sandra, Zachariou, Anna, Marcozzi, Chiara, Clarke, Matthew, de Voer, Richarda, Etemad, Banafsheh, Uijttewaal, Esther, Ramsay, Emma, Wylie, Harriet, Elliott, Anna, Picton, Susan, Smith, Audrey, Smithson, Sarah, Seal, Sheila, Ruark, Elise, Houge, Gunnar, Pines, Jonathan, Kops, Geert J.P.L., Rahman, Nazneen
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5493194/
https://ncbi.nlm.nih.gov/pubmed/28553959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3883
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