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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon, Katalin; Lourenco, Charles Marques; Callewaert, Bert Louis; Geneviève, David; Rouxel, Flavien; Morin, Denis; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley G; Louie, Raymond; Pinto E Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza H; Agre, Katherine E; Jacquemont, Sebastien; Khadijé, Jizi; Giltay, Jacques; van Gassen, Koen; Mero, Gabriella; Gerkes, Erica; Van Bon, Bregje W; Rinne, Tuula; Pfundt, Rolph; Brunner, Han G; Caluseriu, Oana; Grasshoff, Ute; Kehrer, Martin; Haack, Tobias B; Khelifa, Melik Malek; Bergmann, Anke Katharina; Cueto-González, Anna Maria; Martorell, Ariadna Campos; Ramachandrappa, Shwetha; Sawyer, Lindsey B; Fasel, Pascale; Braun, Dominique; Isis, Atallah; Superti-Furga, Andrea; McNiven, Vanda; Chitayat, David; Ahmed, Syed Anas; Brennenstuhl, Heiko; Schwaibolf, Eva Mc; Battisti, Gladys; Parmentier, Benoit; Stevens, Servi J C.
Affiliation
  • Szakszon K; Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary szakszon.katalin@med.unideb.hu.
  • Lourenco CM; Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Debrecen, Hungary.
  • Callewaert BL; Neurogenetics Unit - Inborn Errors of Metabolism Clinics, National Reference Center for Rare Diseases, Medicine School of Sao Jose do Rio Preto, Sao Jose do Rio Preto, Brazil.
  • Geneviève D; Center for Medical Genetics, University Hospital Ghent, Gent, Belgium.
  • Rouxel F; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
  • Morin D; Montpellier University, Inserm Unit U1183, Reference Center for Rare Disease: Developmental Anomalies. Clinical Genetic Unit, CHU Montpellier, Montpellier, France.
  • Denommé-Pichon AS; Rare Congenital Malformations and Rare Intellectual Disability (ERN ITHACA), European Reference Networks, Montpellier, France.
  • Vitobello A; Génétique Clinique, Départment de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier University, Centre de Référence Anomalies du Développement SOOR, Montpellier, France.
  • Patterson WG; Rare Kidney Disease Center, Montpellier University Hospital, Montpellier, France.
  • Louie R; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.
  • Pinto E Vairo F; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.
  • Klee E; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.
  • Kaiwar C; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.
  • Gavrilova RH; Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA.
  • Agre KE; Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.
  • Jacquemont S; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA.
  • Khadijé J; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA.
  • Giltay J; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA.
  • van Gassen K; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA.
  • Mero G; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA.
  • Gerkes E; Sainte-Justine Research Center, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.
  • Van Bon BW; Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.
  • Rinne T; Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.
  • Pfundt R; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Brunner HG; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Caluseriu O; Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary.
  • Grasshoff U; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
  • Kehrer M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Haack TB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Khelifa MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Bergmann AK; Klinische Genetica, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Cueto-González AM; Medical Genetics Clinic, University of Alberta, Edmonton, Alberta, Canada.
  • Martorell AC; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany.
  • Ramachandrappa S; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany.
  • Sawyer LB; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany.
  • Fasel P; Department of Human Genetics, Medical College Hannover, Hannover, Germany.
  • Braun D; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
  • Isis A; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
  • Superti-Furga A; Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Barcelona, Spain.
  • McNiven V; Pediatric Endocrinology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
  • Chitayat D; Endocrinology Group, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Vall d'Hebron Research Institute, Barcelona, Spain.
  • Ahmed SA; Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, UK.
  • Brennenstuhl H; Department of Medical Genetics, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
  • Schwaibolf EM; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.
  • Battisti G; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.
  • Parmentier B; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.
  • Stevens SJC; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.
J Med Genet ; 61(2): 132-141, 2024 Jan 19.
Article in En | MEDLINE | ID: mdl-37580113
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Leukoencephalopathies / Intellectual Disability Type of study: Prognostic_studies Limits: Child / Humans Language: En Journal: J Med Genet Year: 2024 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Leukoencephalopathies / Intellectual Disability Type of study: Prognostic_studies Limits: Child / Humans Language: En Journal: J Med Genet Year: 2024 Document type: Article Affiliation country: Country of publication: