Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype.
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| Title: | Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype. |
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| Authors: | Claus LR; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Snoek R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Faber S; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands., Roskothen-Shevchuk AJC; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands., Sendino Garví E; Division of Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands., Peters EDJ; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Savelberg SMC; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Duran K; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Nguyen TQ; Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Broekhuizen R; Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Brummelhuis WJ; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht, The Netherlands., Rookmaaker M; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands., van der Veen SW; Department of Genetics, Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands., Elferink MG; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Karras A; Department of Nephrology, Assistance Publique-Hôpitaux de Paris (APHP), Hôpital Européen Georges Pompidou, Université de Paris, Paris, France., Raymond L; Soins Intensifs Néphrologiques et Rein Aigu, Department of Nephrology, Sorbonne Université and Assistance Publique-Hôpitaux de Paris (APHP), Paris, France., Mousseaux C; Soins Intensifs Néphrologiques et Rein Aigu, Department of Nephrology, Sorbonne Université and Assistance Publique-Hôpitaux de Paris (APHP), Paris, France., Sadeghi-Alavijeh O; Centre for Genetics and Genomics, Department of Renal Medicine, University College London, London, UK., Sayer JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK., Olinger E; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Neatu R; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Klämbt V; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA., Stokman MF; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands., Knoers NVAM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Tessadori F; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Hubrecht Institute, KNAW and University Medical Center Utrecht, Utrecht, The Netherlands., Gale DP; Centre for Genetics and Genomics, Department of Renal Medicine, University College London, London, UK., Boldt K; Institute of Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.; Core Facility for Medical Proteomics, University of Tübingen, Tübingen, Germany., Ueffing M; Institute of Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany., Slaats GG; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands., Roepman R; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands., Hildebrandt F; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK., Mesnard L; Soins Intensifs Néphrologiques et Rein Aigu, Department of Nephrology, Sorbonne Université and Assistance Publique-Hôpitaux de Paris (APHP), Paris, France., van Haaften G; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands, a.vanEerde@umcutrecht.nl. |
| Source: | Nephron [Nephron] 2026; Vol. 150 (4), pp. 210-227. Date of Electronic Publication: 2025 Nov 27. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Karger Country of Publication: Switzerland NLM ID: 0331777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2235-3186 (Electronic) Linking ISSN: 16608151 NLM ISO Abbreviation: Nephron Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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