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Primrose syndrome: Characterization of the phenotype in 42 patients.

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第一作者: Daniela,Melis
第一单位: Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", Salerno, Italy.
作者单位: Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", Salerno, Italy. [1] Department of Translational Medical Science, Federico II University, Naples, Italy. [2] Medical Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil. [3] Cooks Children's Genetics, Fort Worth, Texas, USA. [4] Department of Neurology, University of Cincinnati, Gardner Family Center for Parkinson's Disease and Movement Disorders, Cincinnati, Ohio, USA. [5] Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA. [6] Department of Genetics, BioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces, Bizkaia, Spain. [7] Department of Genetics, University of Groningen, UMC Groningen, Groningen, The Netherlands. [8] Department of Pediatrics, Division of Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. [9] Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands. [10] Department of Pediatrics, Jeroen Bosch Hospital, 's-Hertogenbosch, The Netherlands. [11] Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK. [12] Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands. [13] Translational Genomic Research Institute, Center for Rare Childhood Disorders, Phoenix, Arizona, USA. [14] Medical Genetics Department, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pensylvania, USA. [15] Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. [16] Department of Clinical Genetics, Podlaskie Medical Center, Bialystok, Poland. [17] Department of Clinical Genetics and GROW School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands. [18] Department of Clinical Genetics Erasmus Medical Center, Rotterdam, The Netherlands. [19] Department of Hematology, Oncology and Molecular Medicine, National Center for Drug Research and Evaluation, Istituto Superiore di Sanità, Rome, Italy. [20] Clinical Genetics Department, Royal Devon & Exeter Healthcare NHS, Exeter, UK. [21] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy. [22] Division of Genetic Medicine, University of Lausanne, Lausanne, Switzerland. [23] North Florida Regional Medical Center, Gainesville, Florida, USA. [24] Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK. [25]
DOI 10.1111/cge.13749
PMID 32266967
发布时间 2021-06-04
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