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| A Missense Variation in the KDM5C Gene Associated with X-Linked Intellectual Disability, Growth Failure, and Epilepsy |
| Jin A Chung, Yunha Choi, Kyu Yong Chae |
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Ann Child Neurol. 2023;31(1):66-69. Published online November 29, 2022 DOI: https://doi.org/10.26815/acn.2022.00276 |
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A Missense Variation in the KDM5C Gene Associated with X-Linked Intellectual Disability, Growth Failure, and Epilepsy Annals of Child Neurology. 2023;31(1):66-69  KDM5C gene variant and non-syndromic X-linked intellectual disability: an updated case report Molecular Genetics and Metabolism. 2021;132:S195 Epilepsy Associated with ASD and Intellectual Disability Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability. 2016;365-373 A novel MED12 mutation associated with non-specific X-linked intellectual disability Human Genome Variation. 2015;2(1): A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX The American Journal of Human Genetics. 2013;92(1):114-125 A novel missense mutation in the
UBE2A
gene causes intellectual disability in the large X‐linked family The Journal of Gene Medicine. 2021;23(2): Genetic disorders associated with intellectual disability The Neuropsychiatry of Epilepsy. 2011;14-23 P353: KDM5C-related X-linked intellectual disability: A review of natural history and expansion of the phenotype Genetics in Medicine Open. 2023;1(1):100381 CNTNAP2 Associated Neurodevelopmental Disorders: Intellectual Disability and Epilepsy comorbidity in Pakistani population. . 2022; CNTNAP2 Associated Neurodevelopmental Disorders: Intellectual Disability and Epilepsy comorbidity in Pakistani population. . 2022; |
