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First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.

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Title: First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.
Authors: Al-Rashdi S; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Ekstrom L; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Collins A; Department of Paediatrics, Children's Health Ireland at Crumlin, Dublin, Ireland., Schulz HL; Zentrum für Humangenetik Tübingen, Tübingen, Germany., Dinwiddie A; Zentrum für Humangenetik Tübingen, Tübingen, Germany., Samango-Sprouse C; Department of Research, The Focus Foundation, Davidsonville, MD, United States.; School of Medicine and Health Sciences, George Washington University, Washington, DC, United States.; Florida International University, Department of Human and Molecular Genetics, Miami, FL, United States., Olaya M; Department of Research, The Focus Foundation, Davidsonville, MD, United States., Moser E; Department of Research, The Focus Foundation, Davidsonville, MD, United States., Green AJ; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2025 Oct 17; Vol. 16, pp. 1688852. Date of Electronic Publication: 2025 Oct 17 (Print Publication: 2025).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.
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  Data: <searchLink fieldCode="AU" term="%22Al-Rashdi+S%22">Al-Rashdi S</searchLink>; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Ekstrom+L%22">Ekstrom L</searchLink>; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Collins+A%22">Collins A</searchLink>; Department of Paediatrics, Children's Health Ireland at Crumlin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Schulz+HL%22">Schulz HL</searchLink>; Zentrum für Humangenetik Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Dinwiddie+A%22">Dinwiddie A</searchLink>; Zentrum für Humangenetik Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Samango-Sprouse+C%22">Samango-Sprouse C</searchLink>; Department of Research, The Focus Foundation, Davidsonville, MD, United States.; School of Medicine and Health Sciences, George Washington University, Washington, DC, United States.; Florida International University, Department of Human and Molecular Genetics, Miami, FL, United States.<br /><searchLink fieldCode="AU" term="%22Olaya+M%22">Olaya M</searchLink>; Department of Research, The Focus Foundation, Davidsonville, MD, United States.<br /><searchLink fieldCode="AU" term="%22Moser+E%22">Moser E</searchLink>; Department of Research, The Focus Foundation, Davidsonville, MD, United States.<br /><searchLink fieldCode="AU" term="%22Green+AJ%22">Green AJ</searchLink>; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
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  Data: <searchLink fieldCode="JN" term="%22101555782%22">Frontiers in endocrinology</searchLink> [Front Endocrinol (Lausanne)] 2025 Oct 17; Vol. 16, pp. 1688852. <i>Date of Electronic Publication: </i>2025 Oct 17 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation]%22">Frontiers Research Foundation] </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101555782 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-2392 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216642392%22">16642392 </searchLink><i>NLM ISO Abbreviation: </i>Front Endocrinol (Lausanne) <i>Subsets: </i>MEDLINE
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              Text: 2025 Oct 17
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