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Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

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Title: Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.
Authors: Matton C; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be., Van De Velde J; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be.; Department of Pediatric Endocrinology, Ghent University Hospital, Ghent, Belgium, uzgent.be.; Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium, ugent.be., De Bruyne M; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be., Van De Sompele S; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be., Hooghe S; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be., Syryn H; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be., Bauwens M; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be., D Haene E; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be., Dheedene A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be., Cools M; Department of Pediatric Endocrinology, Ghent University Hospital, Ghent, Belgium, uzgent.be.; Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium, ugent.be., Komatsuzaki S; Institute of Human Genetics, University of Würzburg, Biozentrum Am Hubland, Würzburg, Germany, uni-wuerzburg.de., Preizner-Rzucidło E; Department of Molecular Genetics, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland, cm-uj.krakow.pl., Ross A; North of Scotland Regional Genetics Service, Laboratory Genetics, Aberdeen Royal Infirmary, Aberdeen, UK, nhsgrampian.org., Armstrong C; North of Scotland Regional Genetics Service, Laboratory Genetics, Aberdeen Royal Infirmary, Aberdeen, UK, nhsgrampian.org., Watkins W; Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand, auckland.ac.nz., Shelling A; Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand, auckland.ac.nz.; Centre for Cancer Research, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand, auckland.ac.nz., Vincent AL; Department of Ophthalmology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand, auckland.ac.nz., Cassiman C; Department of Ophthalmology, Leuven University Hospital, Louvain, Belgium., Vermeer S; Centre of Human Genetics, University Hospitals Leuven, Louvain, Belgium, uzleuven.be., Bunyan DJ; Wessex Regional Genomics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK, wrgl.org.uk.; Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK, southampton.ac.uk., Verdin H; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be., De Baere E; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be.
Source: Human mutation [Hum Mutat] 2026 May 06; Vol. 2026, pp. 8478740. Date of Electronic Publication: 2026 May 06 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
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  Data: Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.
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  Data: <searchLink fieldCode="AU" term="%22Matton+C%22">Matton C</searchLink>; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be.<br /><searchLink fieldCode="AU" term="%22Van+De+Velde+J%22">Van De Velde J</searchLink>; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be.; Department of Pediatric Endocrinology, Ghent University Hospital, Ghent, Belgium, uzgent.be.; Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium, ugent.be.<br /><searchLink fieldCode="AU" term="%22De+Bruyne+M%22">De Bruyne M</searchLink>; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be.<br /><searchLink fieldCode="AU" term="%22Van+De+Sompele+S%22">Van De Sompele S</searchLink>; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be.<br /><searchLink fieldCode="AU" term="%22Hooghe+S%22">Hooghe S</searchLink>; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be.<br /><searchLink fieldCode="AU" term="%22Syryn+H%22">Syryn H</searchLink>; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be.<br /><searchLink fieldCode="AU" term="%22Bauwens+M%22">Bauwens M</searchLink>; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be.<br /><searchLink fieldCode="AU" term="%22D+Haene+E%22">D Haene E</searchLink>; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be.<br /><searchLink fieldCode="AU" term="%22Dheedene+A%22">Dheedene A</searchLink>; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be.<br /><searchLink fieldCode="AU" term="%22Cools+M%22">Cools M</searchLink>; Department of Pediatric Endocrinology, Ghent University Hospital, Ghent, Belgium, uzgent.be.; Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium, ugent.be.<br /><searchLink fieldCode="AU" term="%22Komatsuzaki+S%22">Komatsuzaki S</searchLink>; Institute of Human Genetics, University of Würzburg, Biozentrum Am Hubland, Würzburg, Germany, uni-wuerzburg.de.<br /><searchLink fieldCode="AU" term="%22Preizner-Rzucidło+E%22">Preizner-Rzucidło E</searchLink>; Department of Molecular Genetics, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland, cm-uj.krakow.pl.<br /><searchLink fieldCode="AU" term="%22Ross+A%22">Ross A</searchLink>; North of Scotland Regional Genetics Service, Laboratory Genetics, Aberdeen Royal Infirmary, Aberdeen, UK, nhsgrampian.org.<br /><searchLink fieldCode="AU" term="%22Armstrong+C%22">Armstrong C</searchLink>; North of Scotland Regional Genetics Service, Laboratory Genetics, Aberdeen Royal Infirmary, Aberdeen, UK, nhsgrampian.org.<br /><searchLink fieldCode="AU" term="%22Watkins+W%22">Watkins W</searchLink>; Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand, auckland.ac.nz.<br /><searchLink fieldCode="AU" term="%22Shelling+A%22">Shelling A</searchLink>; Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand, auckland.ac.nz.; Centre for Cancer Research, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand, auckland.ac.nz.<br /><searchLink fieldCode="AU" term="%22Vincent+AL%22">Vincent AL</searchLink>; Department of Ophthalmology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand, auckland.ac.nz.<br /><searchLink fieldCode="AU" term="%22Cassiman+C%22">Cassiman C</searchLink>; 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