Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure.
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| Title: | Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure. |
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| Authors: | Al Alawi I; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; National Genetic Center, Ministry of Health, Muscat, Oman., Powell L; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom., Rice SJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom., Al Riyami MS; Pediatric Nephrology Unit, Department of Child Health, Royal Hospital, Ministry of Health, Muscat, Oman., Al-Riyami M; Department of Pathology, College of Medicine, Sultan Qaboos University, Muscat, Oman., Al Salmi I; Renal Medicine Department, Royal Hospital, Ministry of Health, Muscat, Oman.; Internal Medicine, Oman Medical Specialty Board, Muscat, Oman., Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Newcastle Biomedical Research Centre, NIHR, Newcastle upon Tyne, United Kingdom. |
| Source: | Frontiers in genetics [Front Genet] 2021 Nov 30; Vol. 12, pp. 791495. Date of Electronic Publication: 2021 Nov 30 (Print Publication: 2021). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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