作者:
Nicole,Knöpfel [1]
;
Davide,Zecchin [2]
;
Hanna,Richardson [3]
;
Satyamaanasa,Polubothu [1]
;
Sara,Barberan-Martin [2]
;
Thomas,Cullup [4]
;
Karolina,Gholam [5]
;
Simon,Heales [6]
;
Steve,Krywawych [6]
;
Pablo,López-Balboa [5]
;
Noreen,Muwanga-Nanyonjo [2]
;
Olumide,Ogunbiyi [7]
;
Clinda,Puvirajasinghe [4]
;
Lea,Solman [5]
;
Katherine,Swarbrick [7]
;
Samira B,Syed [5]
;
Zubair,Tahir [8]
;
Martin M,Tisdall [8]
;
Jeremy,Allgrove [9]
;
Alexander D,Chesover [9]
;
Sarah E,Aylett [3]
;
Thomas S,Jacques [10]
;
Fadil M,Hannan [11]
;
Ulrike,Löbel [12]
;
Robert K,Semple [13]
;
Rajesh V,Thakker [14]
;
Veronica A,Kinsler [15]
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