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首页> European journal of medical genetics> ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review.

ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review.

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作者： Neda,Kamal ^[1] ; Hossein Jafari,Khamirani ^[1] ; Sanaz,Mohammadi ^[2] ; Seyed Alireza,Dastgheib ^[3] ; Mehdi,Dianatpour ^[4] ; Seyed Mohammad Bagher,Tabei ^[5]

作者单位： Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran. ^[1] Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran. ^[2] Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. ^[3] Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. ^[4] Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Maternal-fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address: Tabeismb@sums.ac.ir. ^[5]

关键词 Hyperkinetic movements Impaired speech Neurodevelopmental disorder Whole-exome sequencing ZNF142 Zinc finger protein 142

主题词人类(Humans);伊朗(Iran);男(雄)性(Male);突变(Mutation);系谱(Pedigree);表型(Phenotype);发作(Seizures);言语(Speech);言语障碍(Speech Disorders)

DOI 10.1016/j.ejmg.2022.104522

PMID 35618198

发布时间 2022-08-26

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European journal of medical genetics

European journal of medical genetics

2022年65卷7期

104522页

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European journal of medical genetics

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European journal of medical genetics

2022年65卷7期

104522页

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