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De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome

De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge–Ropers syndrome (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and intellectual dis...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Srivastava, Anshika, Ritesh, K.C., Tsan, Yao-Chang, Liao, Rosy, Su, Fengyun, Cao, Xuhong, Hannibal, Mark C., Keegan, Catherine E., Chinnaiyan, Arul M., Martin, Donna M., Bielas, Stephanie L.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4731023/
https://ncbi.nlm.nih.gov/pubmed/26647312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv499
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