Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

BACKGROUND: Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/phenotype gap through the discovery of new genes and va...

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Dades bibliogràfiques
Publicat a:J Med Genet
Autors principals: Pengelly, Reuben J, Greville-Heygate, Stephanie, Schmidt, Susanne, Seaby, Eleanor G, Jabalameli, M Reza, Mehta, Sarju G, Parker, Michael J, Goudie, David, Fagotto-Kaufmann, Christine, Mercer, Catherine, Debant, Anne, Ennis, Sarah, Baralle, Diana
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2016
Matèries:
Cognitive and Behavioural Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5264232/
https://ncbi.nlm.nih.gov/pubmed/27418539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-103942
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