首页> Frontiers in genetics> A Novel Homozygous Frameshift Variant in <i>XYLT2</i> Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family.

A Novel Homozygous Frameshift Variant in <i>XYLT2</i> Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family.

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第一作者： Mehran,Kausar

第一单位： Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.;Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.;Folkhälsan Institute of Genetics, Helsinki, Finland.

作者： Mehran,Kausar ^[1] ; Elaine Guo Yan,Chew ^[2] ; Hazrat,Ullah ^[3] ; Mariam,Anees ^[4] ; Chiea Chuen,Khor ^[5] ; Jia Nee,Foo ^[2] ; Outi,Makitie ^[6] ; Saima,Siddiqi ^[7]

作者单位： Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.;Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.;Folkhälsan Institute of Genetics, Helsinki, Finland. ^[1] Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.;Human Genetics, Genome Institute of Singapore, A∗STAR, Singapore, Singapore. ^[2] National Institute of Rehabilitation Medicine (NIRM), Islamabad, Pakistan. ^[3] Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan. ^[4] Human Genetics, Genome Institute of Singapore, A∗STAR, Singapore, Singapore. ^[5] Folkhälsan Institute of Genetics, Helsinki, Finland.;Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. ^[6] Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan. ^[7]

关键词 cataract osteoporosis spondyloocular syndrome (SOS)whole-exome-sequencing (WES)xylosyltransferase II (XYLT2)

DOI 10.3389/fgene.2019.00144

PMID 30891060

发布时间 2020-10-01

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