Your browser doesn't support javascript.
loading
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Amor, David J; Stephenson, Sarah E M; Mustapha, Mirna; Mensah, Martin A; Ockeloen, Charlotte W; Lee, Wei Shern; Tankard, Rick M; Phelan, Dean G; Shinawi, Marwan; de Brouwer, Arjan P M; Pfundt, Rolph; Dowling, Cari; Toler, Tomi L; Sutton, V Reid; Agolini, Emanuele; Rinelli, Martina; Capolino, Rossella; Martinelli, Diego; Zampino, Giuseppe; Dumic, Miroslav; Reardon, William; Shaw-Smith, Charles; Leventer, Richard J; Delatycki, Martin B; Kleefstra, Tjitske; Mundlos, Stefan; Mortier, Geert; Bahlo, Melanie; Allen, Nicola J; Lockhart, Paul J.
Affiliation
  • Amor DJ; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
  • Stephenson SEM; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
  • Mustapha M; Department of Otolaryngology-Head and Neck Surgery, Stanford University, Stanford, CA 94305, USA.
  • Mensah MA; Institut für Medizinische Genetik, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin 13353, Germany.
  • Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Lee WS; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
  • Tankard RM; The Walter and Eliza Hall Institute of Medical Research, Royal Parade, Parkville, Victoria 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia.
  • Phelan DG; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
  • Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, The Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
  • Dowling C; Molecular Neurobiology Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA.
  • Toler TL; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Agolini E; Laboratory of Medical Genetics, Department of Laboratories, IRCCS Bambino Gesù Children's Hospital, Rome 00165, Italy.
  • Rinelli M; Laboratory of Medical Genetics, Department of Laboratories, IRCCS Bambino Gesù Children's Hospital, Rome 00165, Italy.
  • Capolino R; Medical Genetics, Department of Pediatrics, IRCCS Bambino Gesù Children's Hospital, Rome 00165, Italy.
  • Martinelli D; Division of Metabolism, Department of Pediatric Subspecialties, IRCCS Bambino Gesù Children's Hospital Rome 00165, Italy.
  • Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome 00168, Italy.
  • Dumic M; Department of Pediatrics Rebro, University of Zagreb Medical School, Kispaticeva 12, 10 000 Zagreb, Croatia.
  • Reardon W; Department of Clinical Genetics, Our Lady's Children Hospital Crumlin, Dublin, D12, V004, Ireland.
  • Shaw-Smith C; Department of Clinical Genetics, Royal Devon and Exeter National Health Service Foundation Trust, Exeter EX1 2ED, UK.
  • Leventer RJ; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia; Department of Neurology, Royal Children's Hospital, Flemington Road, Parkv
  • Delatycki MB; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
  • Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, The Netherlands.
  • Mundlos S; Institut für Medizinische Genetik, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin 13353, Germany.
  • Mortier G; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, B-2650 Antwerp (Edegem), Belgium.
  • Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Royal Parade, Parkville, Victoria 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia.
  • Allen NJ; Molecular Neurobiology Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA.
  • Lockhart PJ; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia. Electronic address: paul.lockhart@mcri.edu.au.
Am J Hum Genet ; 104(5): 914-924, 2019 05 02.
Article de En | MEDLINE | ID: mdl-30982611
Sujet(s)
Mots clés
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Variation génétique / Surdité / Anomalies morphologiques congénitales du membre inférieur / Maladies génétiques liées au chromosome X / Glypicanes Type d'étude: Prognostic_studies Limites: Adult / Child / Child, preschool / Female / Humans / Infant / Male Langue: En Journal: Am J Hum Genet Année: 2019 Type de document: Article Pays d'affiliation: Australie
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Variation génétique / Surdité / Anomalies morphologiques congénitales du membre inférieur / Maladies génétiques liées au chromosome X / Glypicanes Type d'étude: Prognostic_studies Limites: Adult / Child / Child, preschool / Female / Humans / Infant / Male Langue: En Journal: Am J Hum Genet Année: 2019 Type de document: Article Pays d'affiliation: Australie