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

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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Dades bibliogràfiques
Autors principals:	Vera M. Kalscheuer, Victoria M. James, Miranda L. Himelright, Philip Long, Renske Oegema, Corinna Jensen, Melanie Bienek, Hao Hu, Stefan A. Haas, Maya Topf, A. Jeannette M. Hoogeboom, Kirsten Harvey, Randall Walikonis, Robert J. Harvey
Format:	Article
Idioma:	English
Publicat:	Frontiers Media S.A. 2016-01-01
Col·lecció:	Frontiers in Molecular Neuroscience
Matèries:	ArfGEF BRAG1 IQ-ArfGEF IQSEC2 MRX78 XLID
Accés en línia:	https://www.frontiersin.org/article/10.3389/fnmol.2015.00085/full

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