A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.

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作者： Atefeh,Mir ^[1] ; Yongjun,Song ^[2] ; Hane,Lee ^[2] ; Mostafa,Montazer-Zohouri ^[3] ; Marziyeh,Reisi ^[4] ; Mohammad Amin,Tabatabaiefar ^[1]

作者单位： Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. ^[1] Division of Medical Genetics, 3Billion Inc, Seoul, South Korea. ^[2] Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran. ^[3] Department of Immunology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. ^[4] Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran. ^[5] GenTArget Corp (GTAC), Deputy of Research and Technology, Isfahan University of Medical Sciences, Isfahan, Iran. ^[6]

关键词 Iran ZNF142 developmental delay exome sequencing intellectual disability speech disorder

主题词儿童(Child);人类(Humans);发育障碍(Developmental Disabilities);诱变, 插入(Mutagenesis, Insertional);同胞(Siblings);言语(Speech)

DOI 10.1002/mgg3.2261

PMID 37496384

发布时间 2023-12-22

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Molecular genetics & genomic medicine

2023年11卷12期

e2261页

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A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.

Molecular genetics & genomic medicine

相似文献

Molecular genetics & genomic medicine

相关期刊

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