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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

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Title: Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Authors: Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Brokamp E; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Signer R; Department of Human Genetics, University of California, Los Angeles, CA, USA., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Glanton E; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Macnamara E; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, NIH, Bethesda, MD, USA., Lincoln S; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Golden-Grant K; Division of Medical Genetics, University of Washington, Seattle, WA, USA., Orengo JP; Department of Neurology, Baylor College of Medicine, Houston, TX, USA., Clark G; Department of Neurology, Baylor College of Medicine, Houston, TX, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Robertson A; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Cogan J; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Martinez-Agosto J; Department of Human Genetics, University of California, Los Angeles, CA, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Corporate Authors: Undiagnosed Diseases Network; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, NIH, Bethesda, MD, USA.
Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Oct; Vol. 8 (10), pp. e1397. Date of Electronic Publication: 2020 Jul 30.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
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  Data: <searchLink fieldCode="AU" term="%22Cope+H%22">Cope H</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Spillmann+R%22">Spillmann R</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Brokamp+E%22">Brokamp E</searchLink>; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Signer+R%22">Signer R</searchLink>; Department of Human Genetics, University of California, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Schoch+K%22">Schoch K</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Glanton+E%22">Glanton E</searchLink>; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Sullivan+JA%22">Sullivan JA</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Macnamara+E%22">Macnamara E</searchLink>; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, NIH, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Lincoln+S%22">Lincoln S</searchLink>; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Golden-Grant+K%22">Golden-Grant K</searchLink>; Division of Medical Genetics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Orengo+JP%22">Orengo JP</searchLink>; Department of Neurology, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Clark+G%22">Clark G</searchLink>; Department of Neurology, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Burrage+LC%22">Burrage LC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Posey+JE%22">Posey JE</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Punetha+J%22">Punetha J</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Robertson+A%22">Robertson A</searchLink>; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Cogan+J%22">Cogan J</searchLink>; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Phillips+JA+3rd%22">Phillips JA 3rd</searchLink>; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Martinez-Agosto+J%22">Martinez-Agosto J</searchLink>; Department of Human Genetics, University of California, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Shashi+V%22">Shashi V</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
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  Data: <searchLink fieldCode="CA" term="%22Undiagnosed+Diseases+Network%22">Undiagnosed Diseases Network</searchLink>; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, NIH, Bethesda, MD, USA.
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  Data: <searchLink fieldCode="JN" term="%22101603758%22">Molecular genetics & genomic medicine</searchLink> [Mol Genet Genomic Med] 2020 Oct; Vol. 8 (10), pp. e1397. <i>Date of Electronic Publication: </i>2020 Jul 30.
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