Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family

Disease gene discovery in neurodevelopmental disorders, including X-linked intellectual disability (XLID) has recently been accelerated by next-generation DNA sequencing approaches. To date, more than 100 human X chromosome genes involved in neuronal signaling pathways and networks implicated in cog...

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Detalhes bibliográficos
Publicado no:Front Mol Neurosci
Main Authors: Kalscheuer, Vera M., James, Victoria M., Himelright, Miranda L., Long, Philip, Oegema, Renske, Jensen, Corinna, Bienek, Melanie, Hu, Hao, Haas, Stefan A., Topf, Maya, Hoogeboom, A. Jeannette M., Harvey, Kirsten, Walikonis, Randall, Harvey, Robert J.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2016
Assuntos:
Neuroscience
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4707274/
https://ncbi.nlm.nih.gov/pubmed/26793055
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnmol.2015.00085
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