Genetic Analysis and Prenatal Diagnosis of a Chinese Pedigree Affected with Syndromic X-Linked Intellectual Disability 94 Due to Exon 5-12 Deletion in GRIA3 Gene

Yanting Jiang
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Yanting Jiang: Shenzhen Qianhai Shekou free Trade Zone hospital, China

Biomedical Journal of Scientific & Technical Research, 2023, vol. 52, issue 5, 44164-44168

Abstract: GRIA3 belongs to a class of an alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)-sensitive glutamate receptor that operates as a ligand-gatedion channel in the central nervous system and has an essential role in excitatory synaptic transmission, localized on the X chromosome, is related to syndromic X-linked intellectual disability 94(MRX94). MRX94, characterized by brain anomalies, namely cerebellar hypoplasia, specific facial features, and intellectual disability, is produced by different mutations in the GRIA3 gene.

Keywords: Journals on Medical Drug and Therapeutics; Journals on Emergency Medicine; Physical Medicine and Rehabilitation; Journals on Infectious Diseases Addiction Science and Clinical Pathology; Open Access Clinical and Medical Journal; Journals on Biomedical Science; List of Open Access Medical Journal; Journals on Biomedical Engineering; Open Access Medical Journal; Biomedical Science Articles; Journal of Scientific and Technical Research (search for similar items in EconPapers)
Date: 2023
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Persistent link: https://EconPapers.repec.org/RePEc:abf:journl:v:52:y:2023:i:5:p:44164-44168

DOI: 10.26717/BJSTR.2023.52.008322

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