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Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 -Related Rothmund-Thomson Syndrome.

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Title: Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 -Related Rothmund-Thomson Syndrome.
Authors: Ay B; School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey., Akgun-Dogan O; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.; Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Istanbul, Turkey., Taylan F; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Abali S; Division of Pediatric Endocrinology, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey., Lim JY; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Malicdan MC; National Institutes of Health, Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Cederroth H; Wilhelm Foundation, Brottby, Sweden., Cederroth M; Wilhelm Foundation, Brottby, Sweden., Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Alanay Y; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.; Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Istanbul, Turkey.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64179. Date of Electronic Publication: 2025 Jul 22.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 -Related Rothmund-Thomson Syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Ay+B%22">Ay B</searchLink>; School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Akgun-Dogan+O%22">Akgun-Dogan O</searchLink>; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.; Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Taylan+F%22">Taylan F</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Marcelis+C%22">Marcelis C</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Abali+S%22">Abali S</searchLink>; Division of Pediatric Endocrinology, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Lim+JY%22">Lim JY</searchLink>; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Malicdan+MC%22">Malicdan MC</searchLink>; National Institutes of Health, Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Cederroth+H%22">Cederroth H</searchLink>; Wilhelm Foundation, Brottby, Sweden.<br /><searchLink fieldCode="AU" term="%22Cederroth+M%22">Cederroth M</searchLink>; Wilhelm Foundation, Brottby, Sweden.<br /><searchLink fieldCode="AU" term="%22Botto+LD%22">Botto LD</searchLink>; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.<br /><searchLink fieldCode="AU" term="%22Alanay+Y%22">Alanay Y</searchLink>; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.; Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Istanbul, Turkey.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64179. <i>Date of Electronic Publication: </i>2025 Jul 22.
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              Text: 2025 Dec
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