首页> European journal of human genetics : EJHG> Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

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第一作者： Caroline,Michot

第一单位： Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France.

作者： Caroline,Michot ^[1] ; Carine,Le Goff ^[1] ; Edward,Blair ^[2] ; Patricia,Blanchet ^[3] ; Yline,Capri ^[4] ; Brigitte,Gilbert-Dussardier ^[5] ; Alice,Goldenberg ^[6] ; Alex,Henderson ^[7] ; Bertrand,Isidor ^[8] ; Hulya,Kayserili ^[9] ; Esther,Kinning ^[10] ; Martine,Le Merrer ^[1] ; Stanislas,Lyonnet ^[1] ; Sylvie,Odent ^[11] ; Pelin Ozlem,Simsek-Kiper ^[12] ; Chloé,Quelin ^[11] ; Ravi,Savarirayan ^[13] ; Marleen,Simon ^[14] ; Miranda,Splitt ^[7] ; Judith M A,Verhagen ^[15] ; Alain,Verloes ^[3] ; Arnold,Munnich ^[1] ; Geneviève,Baujat ^[1] ; Valérie,Cormier-Daire ^[16]

作者单位： Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France. ^[1] Oxford Centre for Genomic Medicine ACE Building, Nuffield Orthopaedic Centre Oxford University Hospitals NHS Foundation Trust Headington, Oxford, OX3 7LE, UK. ^[2] Department of Medical Genetics, CHRU de Montpellier-Arnaud de Villeneuve Hospital, Montpellier, France. ^[3] Department of Medical Genetics, INSERM U676, Robert Debré Hospital, Paris, France. ^[4] Department of Genetics, C.H.U. La Milétrie, Poitiers, France, Poitiers University, EA3808, Poitiers, France. ^[5] Department of Genetics, CHU de Rouen, Centre of Medical Genomics and of Personalized Medicine of Normandy, Rouen, France. ^[6] Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne, UK. ^[7] Department of Medical Genetics, C.H.U. de Nantes, Nantes, France. ^[8] Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey. ^[9] The Ferguson-Smith Centre for Clinical Genetics Royal Hospital for Sick Children, Glasgow, UK. ^[10] Department of Clinical Genetics, CHU de Rennes, Rennes University, CNRS IGDR (institut de génétique et développement de Rennes), UMR6290, Rennes, France. ^[11] Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. ^[12] Victorian Clinical Genetics Service, Murdoch Children's Research Institute and University of Melbourne, Melbourne, Australia. ^[13] Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands. ^[14] Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands. ^[15] Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France. valerie.cormier-daire@inserm.fr. ^[16]