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Variants in FREM1 and trisomy 18 identified in a neonatal progeria patient.

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第一作者： Saima,Siddiqi

第一单位： Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan. saimasiddiqi2@gmail.com.

作者： Saima,Siddiqi ^[1] ; Noor Ul,Ain ^[2] ; Mehran,Kauser ^[3] ; Zahra,Mukhtar ^[4] ; Muhammad,Ansar ^[5] ; Muhammad,Umair ^[6]

作者单位： Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan. saimasiddiqi2@gmail.com. ^[1] Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan. ^[2] Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.;Department of Animal Sciences/MLT, Faculty of life sciences, Karakoram International University (KIU), Gilgit, GB, Pakistan. ^[3] Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.;PMAS arid Agriculture University, Rawalpindi, Pakistan. ^[4] Laboratory of Genetic medicine and Development, University of Geneva, Geneva, Switzerland. ^[5] Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard Health Affairs (MNGH), King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. ^[6]

关键词 Compound heterozygous variants FREM1 Neonatal progeria

医学主题词人类(Humans);早衰(Progeria);比较基因组杂交(Comparative Genomic Hybridization);表型(Phenotype);突变(Mutation)

DOI 10.1007/s11033-023-08595-y

PMID 37470964

发布时间 2023-08-31

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