Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
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| Title: | Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia. |
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| Authors: | Kiparissi F; Department of Paediatric Gastroenterology & Nutrition, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Dastamani A; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Palm L; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Azabdaftari A; Translational Gastroenterology Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK., Campos L; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Gaynor E; Department of Paediatric Gastroenterology & Nutrition, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Grünewald S; Department of Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Uhlig HH; Translational Gastroenterology Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.; Department of Paediatrics and Biomedical Research Centre, University of Oxford, Oxford, UK., Kleta R; Department of Renal Medicine, University College London, London, UK.; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Böckenhauer D; Department of Renal Medicine, University College London, London, UK.; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Jones KDJ; Department of Paediatric Gastroenterology & Nutrition, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. kelsey.jones@gosh.nhs.uk.; The Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Sciences, University of Oxford, Oxford, UK. kelsey.jones@gosh.nhs.uk. |
| Source: | Human genetics [Hum Genet] 2023 May; Vol. 142 (5), pp. 697-704. Date of Electronic Publication: 2023 Feb 11. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1432-1203 |
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| DOI: | 10.1007/s00439-023-02523-7 |
