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Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.

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第一作者: Andrea,Angius
第一单位: Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.
作者单位: Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy. [1] Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy. [2] Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.;Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy. [3] Cells in Motion Cluster of Excellence, Münster University, Münster, Germany.;Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany. [4] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.;Provincial Health Service Authority, B.C. Children's and Women's Health Centre, Vancouver, British Columbia, Canada.;Department of Medical Genetics, Victoria Island Health Authority, Vancouver, British Columbia, Canada. [5] Provincial Health Service Authority, B.C. Children's and Women's Health Centre, Vancouver, British Columbia, Canada. [6] Department of Medical Genetics, Victoria Island Health Authority, Vancouver, British Columbia, Canada. [7] Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.;NIHR Biomedical Research Centre at Great Ormond Street Hospital, London, UK. [8] Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK. [9] Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden. [10] Institute of Medical and Molecular Genetics, University Hospital La Paz, CIBERER, ISCiii, Madrid, Spain. [11] Clinica Sant'Anna, Cagliari, Italy. [12]
DOI 10.1111/cge.13532
PMID 30859550
发布时间 2022-12-07
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