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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

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作者单位: All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK. vani.jain@wales.nhs.uk. [1] Department of Dermatology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK. [2] Department of Dermatology, Gleneagles Hospital Medini, Nusajaya, 79250, Johor, Malaysia. [3] School of Medicine, Cardiff University, Heath Park Campus, Cardiff, CF14 4YS, UK. [4] University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK. [5] Department of Dermatology, Royal Gwent Hospital, Newport, NP20 2UB, UK. [6] Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway. [7] All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK. [8] Division of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK. [9] Department of Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, D12 N512, Ireland. [10] Department of Clinical Genetics, The National Maternity Hospital, Holles Street, Dublin, D02 YH21, Ireland. [11] Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, K1H 8L1, Canada. [12] Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, L8 7SS, UK. [13] North West Thames Regional Genetic Service, Kennedy Galton Centre, Northwick Park Hospital, Harrow, HA1 3UJ, UK. [14] Department of Clinical Genetics, Northern General Hospital, Sheffield, S5 7AU, UK. [15] North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, WC1N 3JH, UK. [16] Department of Pediatrics, Division of Human Genetics, Penn State Health Children's Hospital, Hershey, Pennsylvania, 17033, USA. [17] GeneDx, Gaithersburg, Maryland, 20877, USA. [18] Department of Medical Genetics, St. Olavs Hospital, Trondheim University Hospital, 7030, Trondheim, Norway. [19] Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK. [20] All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK. fryae@cardiff.ac.uk. [21] Division of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK. fryae@cardiff.ac.uk. [22]
DOI 10.1038/s41431-023-01447-0
PMID 37704779
发布时间 2023-12-19
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European journal of human genetics : EJHG

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