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. |
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| 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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| ISSN: | 1664-2392 |
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| DOI: | 10.3389/fendo.2025.1688852 |
