A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.

导出 OA

翻译打印收藏纠错

作者： Aljazi,Al-Maraghi ^[1] ; Waleed,Aamer ^[1] ; Mubarak,Ziab ^[2] ; Elbay,Aliyev ^[1] ; Najwa,Elbashir ^[1] ; Sura,Hussein ^[1] ; Sasirekha,Palaniswamy ^[1] ; Dhullipala,Anand ^[3] ; Donald R,Love ^[4] ; Adrian,Charles ^[5] ; Ammira,A S Akil ^[2] ; Khalid A,Fakhro ^[6]

作者单位： Laboratory of Genomic Medicine, Sidra Medicine, P.O. Box 26999, Doha, Qatar. ^[1] Department of Human Genetics-Precision Medicine in Diabetes Prevention, Sidra Medicine, P.O. Box 26999, Doha, Qatar. ^[2] Neonatology Division, Sidra Medicine, P.O. Box 26999, Doha, Qatar. ^[3] Genetic Pathology, Sidra Medicine, P.O. Box 26999, Doha, Qatar. ^[4] Anatomical Pathology, Sidra Medicine, P.O. Box 26999, Doha, Qatar. ^[5] Laboratory of Genomic Medicine, Sidra Medicine, P.O. Box 26999, Doha, Qatar. kfakhro@sidra.org. ^[6] Department of Human Genetics-Precision Medicine in Diabetes Prevention, Sidra Medicine, P.O. Box 26999, Doha, Qatar. kfakhro@sidra.org. ^[7] College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar. kfakhro@sidra.org. ^[8] Department of Genetic Medicine, Weill Cornell Medical College, P.O. Box 24144, Doha, Qatar. kfakhro@sidra.org. ^[9]

关键词 AGTR1 Middle East Rare Mendelian disease Renal tubular dysgenesis Whole genome sequencing