A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.

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第一作者： Jamal,Manoochehri

第一单位： Department of Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran.

作者： Jamal,Manoochehri ^[1] ; Seyed Alireza,Dastgheib ^[2] ; Hossein Jafari,Khamirani ^[3] ; Maryam,Mollaie ^[4] ; Zahra,Sharifi ^[4] ; Sina,Zoghi ^[4] ; Seyed Mohammad Bagher,Tabei ^[5] ; Sanaz,Mohammadi ^[6] ; Fatemeh,Dehghanian ^[6] ; Zahra,Farbod ^[6] ; Mehdi,Dianatpour ^[7]

作者单位： Department of Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran. ^[1] Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. ^[2] Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.;Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran. ^[3] Student Research Committee, 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. ^[5] Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran. ^[6] Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. dianatpour@sums.ac.ir.;Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. dianatpour@sums.ac.ir. ^[7]

DOI 10.1038/s41439-021-00164-8

PMID 34385424

发布时间 2022-01-13

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Human genome variation

2021年8卷1期

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A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.

Human genome variation

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A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.

Human genome variation

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Human genome variation

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