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Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

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第一作者： Yassine,Zouaghi

第一单位： University of Lausanne, Lausanne, Switzerland.;Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland.

作者： Yassine,Zouaghi ^[1] ; Anbreen Mazhar,Choudhary ^[2] ; Saba,Irshad ^[3] ; Michela,Adamo ^[1] ; Khaleeq Ur,Rehman ^[4] ; Ambrin,Fatima ^[5] ; Mariam,Shahid ^[6] ; Nida,Najmi ^[7] ; Fernanda,De Azevedo Correa ^[1] ; Imen,Habibi ^[1] ; Alexia,Boizot ^[1] ; Nicolas J,Niederländer ^[1] ; Muhammad,Ansar ^[8] ; Federico,Santoni ^[9] ; James,Acierno ^[10] ; Nelly,Pitteloud ^[11]

作者单位： University of Lausanne, Lausanne, Switzerland.;Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland. ^[1] School of Biochemistry and Biotechnology, University of the Punjab, Lahore, Pakistan.;FMH College of Medicine & Dentistry, Lahore, Pakistan. ^[2] School of Biochemistry and Biotechnology, University of the Punjab, Lahore, Pakistan. ^[3] FMH College of Medicine & Dentistry, Lahore, Pakistan. ^[4] Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan. ^[5] Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan. ^[6] Department of Obstetrics and Gynaecology, The Aga Khan University Hospital, Karachi, Pakistan. ^[7] Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.;Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan. ^[8] University of Lausanne, Lausanne, Switzerland.;Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland.;, Medigenome, Geneva, Switzerland. ^[9] Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland. ^[10] University of Lausanne, Lausanne, Switzerland. nelly.pitteloud@chuv.ch.;Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland. nelly.pitteloud@chuv.ch. ^[11]

关键词 Congenital hypogonadotropic hypogonadism Copy number variants Infertility Rare endocrine disease Whole genome sequencing