De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

BACKGROUND: Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes that may otherwise be co-assigned as a specific syndrome based on shared clinical features, and can associate phenotypically diverse diseases to a single locus through allelic affinity. Here we describe...

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Detalles Bibliográficos
Autores principales: Bainbridge, Matthew N, Hu, Hao, Muzny, Donna M, Musante, Luciana, Lupski, James R, Graham, Brett H, Chen, Wei, Gripp, Karen W, Jenny, Kim, Wienker, Thomas F, Yang, Yaping, Sutton, V Reid, Gibbs, Richard A, Ropers, H Hilger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3707024/
https://www.ncbi.nlm.nih.gov/pubmed/23383720
http://dx.doi.org/10.1186/gm415

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