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Monoallelic IFT140 Variants Causing Childhood-Onset Autosomal Dominant Polycystic Kidney Disease.

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Title: Monoallelic IFT140 Variants Causing Childhood-Onset Autosomal Dominant Polycystic Kidney Disease.
Authors: Griffiths JD; Kidney Genetics Group, Division of Clinical Medicine, University of Sheffield Medical School, Sheffield, United Kingdom; Sheffield Kidney Institute, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom., Ehidiamhen G; Department of Paediatrics, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom., Lopez-Garcia SC; Department of Paediatrics, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom., Hubbard R; Department of Radiology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom., Cook J; Department of Clinical Genetics, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom., Ong ACM; Kidney Genetics Group, Division of Clinical Medicine, University of Sheffield Medical School, Sheffield, United Kingdom; Sheffield Kidney Institute, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom. Electronic address: a.ong@sheffield.ac.uk.
Source: American journal of kidney diseases : the official journal of the National Kidney Foundation [Am J Kidney Dis] 2026 Jan; Vol. 87 (1), pp. 124-128. Date of Electronic Publication: 2025 Sep 17.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 8110075 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-6838 (Electronic) Linking ISSN: 02726386 NLM ISO Abbreviation: Am J Kidney Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Monoallelic IFT140 Variants Causing Childhood-Onset Autosomal Dominant Polycystic Kidney Disease.
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  Data: <searchLink fieldCode="AU" term="%22Griffiths+JD%22">Griffiths JD</searchLink>; Kidney Genetics Group, Division of Clinical Medicine, University of Sheffield Medical School, Sheffield, United Kingdom; Sheffield Kidney Institute, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ehidiamhen+G%22">Ehidiamhen G</searchLink>; Department of Paediatrics, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lopez-Garcia+SC%22">Lopez-Garcia SC</searchLink>; Department of Paediatrics, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hubbard+R%22">Hubbard R</searchLink>; Department of Radiology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cook+J%22">Cook J</searchLink>; Department of Clinical Genetics, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ong+ACM%22">Ong ACM</searchLink>; Kidney Genetics Group, Division of Clinical Medicine, University of Sheffield Medical School, Sheffield, United Kingdom; Sheffield Kidney Institute, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom. Electronic address: a.ong@sheffield.ac.uk.
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  Data: <searchLink fieldCode="JN" term="%228110075%22">American journal of kidney diseases : the official journal of the National Kidney Foundation</searchLink> [Am J Kidney Dis] 2026 Jan; Vol. 87 (1), pp. 124-128. <i>Date of Electronic Publication: </i>2025 Sep 17.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22W%2EB%2E+Saunders%22">W.B. Saunders </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8110075 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1523-6838 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2202726386%22">02726386 </searchLink><i>NLM ISO Abbreviation: </i>Am J Kidney Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1053/j.ajkd.2025.08.006
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        Text: English
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              Text: 2026 Jan
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