NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

We report two brothers from a non-consanguineous Irish family presenting with a novel syndrome characterised by intellectual disability, facial dysmorphism, scoliosis and long QT. Their mother has a milder phenotype including long QT. X-linked inheritance was suspected. Whole exome sequencing identi...

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Detalles Bibliográficos
Autores principales: Casey, Jillian P., Støve, Svein I., McGorrian, Catherine, Galvin, Joseph, Blenski, Marina, Dunne, Aimee, Ennis, Sean, Brett, Francesca, King, Mary D., Arnesen, Thomas, Lynch, Sally Ann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4629191/
https://www.ncbi.nlm.nih.gov/pubmed/26522270
http://dx.doi.org/10.1038/srep16022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4629191/
https://www.ncbi.nlm.nih.gov/pubmed/26522270
http://dx.doi.org/10.1038/srep16022

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