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GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.

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作者单位: Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom; Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom. [1] Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom. [2] Neurodisability, Great Ormond St Hospital for Children, London, United Kingdom. [3] North Thames Genomic Laboratory Hub, Levels 4-6, Barclay House, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom. [4] Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom. [5] Department of Chemical Pathology NIHR BRC, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom. [6] Department of Histopathology, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom. [7] Paediatric Neurosurgery, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom. [8] Endocrinology, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom. [9] Department of Histopathology, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom; Developmental Biology and Cancer Programme, UCL GOS Institute of Child Health, London, United Kingdom. [10] Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, United Kingdom. [11] Radiology, Great Ormond St Hospital for Children, London, United Kingdom. [12] Centre for Cardiovascular Science, Queen's Medical Research Institute, University of Edinburgh, Edinburgh, United Kingdom. [13] Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; National Institute for Health Research Oxford Biomedical Research Centre; Oxford, United Kingdom. [14] Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom; Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom. Electronic address: v.kinsler@ucl.ac.uk. [15]
DOI 10.1016/j.jid.2023.09.008
PMID 37802294
发布时间 2024-11-27
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The Journal of investigative dermatology

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