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Primrose syndrome: Characterization of the phenotype in 42 patients.

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Title: Primrose syndrome: Characterization of the phenotype in 42 patients.
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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  Data: <searchLink fieldCode="AU" term="%22Melis+D%22">Melis D</searchLink>; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Salerno, Italy.; Department of Translational Medical Science, Federico II University, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Carvalho+D%22">Carvalho D</searchLink>; Medical Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.<br /><searchLink fieldCode="AU" term="%22Barbaro-Dieber+T%22">Barbaro-Dieber T</searchLink>; Cooks Children's Genetics, Fort Worth, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Espay+AJ%22">Espay AJ</searchLink>; Department of Neurology, University of Cincinnati, Gardner Family Center for Parkinson's Disease and Movement Disorders, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Gambello+MJ%22">Gambello MJ</searchLink>; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22Gener+B%22">Gener B</searchLink>; Department of Genetics, BioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces, Bizkaia, Spain.<br /><searchLink fieldCode="AU" term="%22Gerkes+E%22">Gerkes E</searchLink>; Department of Genetics, University of Groningen, UMC Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hitzert+MM%22">Hitzert MM</searchLink>; Department of Genetics, University of Groningen, UMC Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hove+HB%22">Hove HB</searchLink>; Department of Pediatrics, Division of Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Jansen+S%22">Jansen S</searchLink>; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Jira+PE%22">Jira PE</searchLink>; Department of Pediatrics, Jeroen Bosch Hospital, 's-Hertogenbosch, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lachlan+K%22">Lachlan K</searchLink>; Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Menke+LA%22">Menke LA</searchLink>; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Narayanan+V%22">Narayanan V</searchLink>; Translational Genomic Research Institute, Center for Rare Childhood Disorders, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Ortiz+D%22">Ortiz D</searchLink>; Medical Genetics Department, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pensylvania, USA.<br /><searchLink fieldCode="AU" term="%22Overwater+E%22">Overwater E</searchLink>; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Posmyk+R%22">Posmyk R</searchLink>; Department of Clinical Genetics, Podlaskie Medical Center, Bialystok, Poland.<br /><searchLink fieldCode="AU" term="%22Ramsey+K%22">Ramsey K</searchLink>; Translational Genomic Research Institute, Center for Rare Childhood Disorders, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Rossi+A%22">Rossi A</searchLink>; Department of Translational Medical Science, Federico II University, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Sandoval+RL%22">Sandoval RL</searchLink>; Department of Translational Medical Science, Federico II University, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Stumpel+C%22">Stumpel C</searchLink>; Department of Clinical Genetics and GROW School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Stuurman+KE%22">Stuurman KE</searchLink>; Department of Clinical Genetics Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Cordeddu+V%22">Cordeddu V</searchLink>; Department of Hematology, Oncology and Molecular Medicine, National Center for Drug Research and Evaluation, Istituto Superiore di Sanità, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Turnpenny+P%22">Turnpenny P</searchLink>; Clinical Genetics Department, Royal Devon & Exeter Healthcare NHS, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Strisciuglio+P%22">Strisciuglio P</searchLink>; Department of Translational Medical Science, Federico II University, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Tartaglia+M%22">Tartaglia M</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Unger+S%22">Unger S</searchLink>; Division of Genetic Medicine, University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Waters+T%22">Waters T</searchLink>; North Florida Regional Medical Center, Gainesville, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Turnbull+C%22">Turnbull C</searchLink>; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.<br /><searchLink fieldCode="AU" term="%22Hennekam+RC%22">Hennekam RC</searchLink>; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2020 Jun; Vol. 97 (6), pp. 890-901. <i>Date of Electronic Publication: </i>2020 Apr 20.
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