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Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
Chiu, A T G; Pei, S L C; Mak, C C Y; Leung, G K C; Yu, M H C; Lee, S L; Vreeburg, M; Pfundt, R; van der Burgt, I; Kleefstra, T; Frederic, T M-T; Nambot, S; Faivre, L; Bruel, A-L; Rossi, M; Isidor, B; Küry, S; Cogne, B; Besnard, T; Willems, M; Reijnders, M R F; Chung, B H Y.
Affiliation
  • Chiu ATG; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.
  • Pei SLC; Department of Paediatrics, Duchess of Kent Children's Hospital, Hong Kong, Hong Kong.
  • Mak CCY; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.
  • Leung GKC; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.
  • Yu MHC; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.
  • Lee SL; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.
  • Vreeburg M; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.
  • Pfundt R; Department of Paediatrics, Duchess of Kent Children's Hospital, Hong Kong, Hong Kong.
  • van der Burgt I; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, the Netherlands.
  • Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Frederic TM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Nambot S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Faivre L; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
  • Bruel AL; Centre de Génétique et Centre de référence, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.
  • Rossi M; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, France.
  • Isidor B; INSERM UMR 1231 GAD, Génétique des Anomalies du Développement, Dijon, France.
  • Küry S; Centre de Génétique et Centre de référence, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.
  • Cogne B; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, France.
  • Besnard T; Centre de Génétique et Centre de référence, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.
  • Willems M; INSERM UMR 1231 GAD, Génétique des Anomalies du Développement, Dijon, France.
  • Reijnders MRF; Service de Génétique, Centre de Référence Anomalies du Développement, Hospices Civils de Lyon, Lyon, France.
  • Chung BHY; GENDEV Team, Centre de Recherche en Neurosciences de Lyon, INSERM U1028, CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France.
Clin Genet ; 93(4): 880-890, 2018 04.
Article in En | MEDLINE | ID: mdl-29240241
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Neurodevelopmental Disorders / Intellectual Disability Type of study: Guideline Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Clin Genet Year: 2018 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Neurodevelopmental Disorders / Intellectual Disability Type of study: Guideline Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Clin Genet Year: 2018 Document type: Article