ArticleNeurology. Genetics2022
Novel Synonymous and Frameshift Variants in the
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Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5citing papers in PubMed
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5 citing papers in PubMed, 4 citations in OpenAlex.
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- The Role of a Novel TRIP12 Mutation in Intellectual Disability: A Molecular and Clinical Investigation in Multiplex Family.Journal of molecular neuroscience : MN · 2025Article
- E3 ligases: a ubiquitous link between DNA repair, DNA replication and human disease.The Biochemical journal · 2024Review
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Authors and funding
11 authors at 1 institution in 1 country.
Sheng YiGenetic and Metabolic Central Laboratory (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; and Pediatrics Department (Leini Huang, Y.F.), Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Fei ChenGenetic and Metabolic Central Laboratory (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; and Pediatrics Department (Leini Huang, Y.F.), Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Zailong QinGenetic and Metabolic Central Laboratory (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; and Pediatrics Department (Leini Huang, Y.F.), Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Shang YiGenetic and Metabolic Central Laboratory (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; and Pediatrics Department (Leini Huang, Y.F.), Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Limei HuangGenetic and Metabolic Central Laboratory (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; and Pediatrics Department (Leini Huang, Y.F.), Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Leini HuangGenetic and Metabolic Central Laboratory (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; and Pediatrics Department (Leini Huang, Y.F.), Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Ying FengGenetic and Metabolic Central Laboratory (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; and Pediatrics Department (Leini Huang, Y.F.), Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Hao WeiGenetic and Metabolic Central Laboratory (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; and Pediatrics Department (Leini Huang, Y.F.), Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Qi YangGenetic and Metabolic Central Laboratory (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; and Pediatrics Department (Leini Huang, Y.F.), Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Qinle ZhangGenetic and Metabolic Central Laboratory (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; and Pediatrics Department (Leini Huang, Y.F.), Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Jingsi LuoGenetic and Metabolic Central Laboratory (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention (Sheng Yi, F.C., Z.Q., Shang Yi, Limei Huang, H.W., Q.Y., Q.Z., J.L.), Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; and Pediatrics Department (Leini Huang, Y.F.), Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Guangxi Maternal and Child Health Hospital · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Clark-Baraitser syndrome is characterized by intellectual disability with or without autism spectrum disorders, speech delay, motor delay, behavioral abnormalities, and facial dysmorphism. It is caused by a heterozygous pathogenic variant in the thyroid hormone receptor interactor 12 ( Methods: We conducted an exome sequencing analysis for 2 unrelated patients with moderate intellectual disability, speech delay, and motor delay. Results: We identified 2 de novo Discussion: We reported 2 patients with Clark-Baraitser syndrome caused by novel synonymous and frameshift variants in the
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