Primrose syndrome: Characterization of the phenotype in 42 patients.
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| Title: | Primrose syndrome: Characterization of the phenotype in 42 patients. |
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| Authors: | Melis D; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Salerno, Italy.; Department of Translational Medical Science, Federico II University, Naples, Italy., Carvalho D; Medical Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Barbaro-Dieber T; Cooks Children's Genetics, Fort Worth, Texas, USA., Espay AJ; Department of Neurology, University of Cincinnati, Gardner Family Center for Parkinson's Disease and Movement Disorders, Cincinnati, Ohio, USA., Gambello MJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Gener B; Department of Genetics, BioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces, Bizkaia, Spain., Gerkes E; Department of Genetics, University of Groningen, UMC Groningen, Groningen, The Netherlands., Hitzert MM; Department of Genetics, University of Groningen, UMC Groningen, Groningen, The Netherlands., Hove HB; Department of Pediatrics, Division of Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Jansen S; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands., Jira PE; Department of Pediatrics, Jeroen Bosch Hospital, 's-Hertogenbosch, The Netherlands., Lachlan K; Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK., Menke LA; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands., Narayanan V; Translational Genomic Research Institute, Center for Rare Childhood Disorders, Phoenix, Arizona, USA., Ortiz D; Medical Genetics Department, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pensylvania, USA., Overwater E; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Posmyk R; Department of Clinical Genetics, Podlaskie Medical Center, Bialystok, Poland., Ramsey K; Translational Genomic Research Institute, Center for Rare Childhood Disorders, Phoenix, Arizona, USA., Rossi A; Department of Translational Medical Science, Federico II University, Naples, Italy., Sandoval RL; Department of Translational Medical Science, Federico II University, Naples, Italy., Stumpel C; Department of Clinical Genetics and GROW School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands., Stuurman KE; Department of Clinical Genetics Erasmus Medical Center, Rotterdam, The Netherlands., Cordeddu V; Department of Hematology, Oncology and Molecular Medicine, National Center for Drug Research and Evaluation, Istituto Superiore di Sanità, Rome, Italy., Turnpenny P; Clinical Genetics Department, Royal Devon & Exeter Healthcare NHS, Exeter, UK., Strisciuglio P; Department of Translational Medical Science, Federico II University, Naples, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy., Unger S; Division of Genetic Medicine, University of Lausanne, Lausanne, Switzerland., Waters T; North Florida Regional Medical Center, Gainesville, Florida, USA., Turnbull C; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., Hennekam RC; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands. |
| Source: | Clinical genetics [Clin Genet] 2020 Jun; Vol. 97 (6), pp. 890-901. Date of Electronic Publication: 2020 Apr 20. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.13749 |
