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| A Novel Nonsense Variant in the BCL11A Gene in a Male Patient with Intellectual Disability and Epilepsy |
| Seung Ho Kim, Go Hun Seo, Seung Hwan Oh, Woo Yeong Chung, Jeesuk Yu |
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Ann Child Neurol. 2023;31(1):82-85. Published online December 12, 2022 DOI: https://doi.org/10.26815/acn.2022.00304 |
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A Novel Nonsense Variant in the BCL11A Gene in a Male Patient with Intellectual Disability and Epilepsy Annals of Child Neurology. 2023;31(1):82-85  Novel BCL11A variant Arg3Cys in a patient with intellectual disability and persistence of fetal Hb Molecular Genetics and Metabolism. 2021;132:S91-S92 A Novel de novo Frameshift Mutation in the <b><i>BCL11A</i></b> Gene in a Patient with Intellectual Disability Syndrome and Epilepsy Molecular Syndromology. 2020;11(3):135-140 Novel
American Journal of Medical Genetics Part A. 2020;182(11):2765-2772 NOVEL HOMOZYGOUS VARIANT OF TBC1 DOMAIN FAMILY MEMBER 8 GENE IN FOUR LIBYAN SIBLINGS WITH AUTISTIC SPECTRUM DISORDER AND INTELLECTUAL DISABILITY WITHOUT EPILEPSY Innovare Journal of Medical Sciences. 2021;1-4 A novel nonsense homozygous variant in the NLGN1
gene found in a pair of monozygotic twin brothers with intellectual disability and autism Clinical Genetics. 2018;95(2):339-340 Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability European Journal of Medical Genetics. 2020;63(12):104092 Heterozygous nonsense variant of
Congenital Anomalies. 2020;61(1):30-32 Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A Epilepsy & Behavior Reports. 2022;19:100556 A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity The Application of Clinical Genetics. 2022;Volume 15:63-68 |
