Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

Intellectual disability (ID) affects up to 2% of the population world-wide and often coincides with other neurological conditions such as autism spectrum disorders. Mutations in KDM5C cause Mental Retardation, X-linked, Syndromic, Claes-Jensen type (MRXSCJ, OMIM #300534) and are one of the most comm...

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Bibliographic Details
Main Authors: Christina N. Vallianatos, Clara Farrehi, Michael J. Friez, Margit Burmeister, Catherine E. Keegan, Shigeki Iwase
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-04-01
Series:Frontiers in Molecular Neuroscience
Subjects:
autism spectrum disorders
X-linked intellectual disability
KDM5C/SMCX/JARID1C
mutation analysis
chromatin
histone demethylase
Online Access:http://journal.frontiersin.org/article/10.3389/fnmol.2018.00104/full

Internet

http://journal.frontiersin.org/article/10.3389/fnmol.2018.00104/full

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