Expanding our knowledge of conditions associated with the ASXL gene family

Genome-wide sequencing has identified de novo truncating mutations in ASXL3 in four patients with intellectual disability, feeding problems and distinctive facial features. Their presentation resembles that of Bohring-Opitz syndrome, which is associated with de novo nonsense mutations in ASXL1. This...

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Detalles Bibliográficos
Autores principales: Russell, Bianca, Graham, John M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Highlight
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706972/
https://www.ncbi.nlm.nih.gov/pubmed/23672984
http://dx.doi.org/10.1186/gm420

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706972/
https://www.ncbi.nlm.nih.gov/pubmed/23672984
http://dx.doi.org/10.1186/gm420

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