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A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha, Bettina E; Banka, Siddharth; Ajeawung, Norbert Fonya; Molidperee, Sirinart; Chen, Gary G; Koenig, Mary Kay; Adejumo, Rhamat B; Till, Marianne; Harbord, Michael; Perrier, Renee; Lemyre, Emmanuelle; Boucher, Renee-Myriam; Skotko, Brian G; Waxler, Jessica L; Thomas, Mary Ann; Hodge, Jennelle C; Gecz, Jozef; Nicholl, Jillian; McGregor, Lesley; Linden, Tobias; Sisodiya, Sanjay M; Sanlaville, Damien; Cheung, Sau W; Ernst, Carl; Campeau, Philippe M.
Afiliação
  • Mucha BE; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC, Canada.
  • Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL, Manchester, UK.
  • Ajeawung NF; Centre de Recherche du CHU Sainte-Justine, Montreal, QC, Canada.
  • Molidperee S; Centre de Recherche du CHU Sainte-Justine, Montreal, QC, Canada.
  • Chen GG; Department of Psychiatry, McGill University, Montreal, QC, Canada.
  • Koenig MK; Department of Pediatrics, Division of Child & Adolescent Neurology, The University of Texas McGovern Medical School, Houston, TX, USA.
  • Adejumo RB; Department of Pediatrics, Division of Child & Adolescent Neurology, The University of Texas McGovern Medical School, Houston, TX, USA.
  • Till M; Service de Génétique CHU de Lyon-GH Est, Lyon, France.
  • Harbord M; Department of Pediatrics, Flinders Medical Centre, Bedford Park, SA, Australia.
  • Perrier R; Department of Medical Genetics, University of Calgary, Calgary, AB, Canada.
  • Lemyre E; Department of Pediatrics, Université de Montréal, Montreal, QC, Canada.
  • Boucher RM; Department of Pediatrics, CHU Laval, Quebec City, QC, Canada.
  • Skotko BG; Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
  • Waxler JL; Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
  • Thomas MA; Department of Medical Genetics, University of Calgary, Calgary, AB, Canada.
  • Hodge JC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
  • Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, Australia.
  • Nicholl J; South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, Adelaide, Australia.
  • McGregor L; South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, Adelaide, Australia.
  • Linden T; Klinik für Neuropädiatrie und Stoffwechselerkrankungen, Zentrum für Kinder- und Jugendmedizin, Oldenburg, Germany.
  • Sisodiya SM; Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom.
  • Sanlaville D; Chalfont Centre for Epilepsy, Bucks, United Kingdom.
  • Cheung SW; Service de Génétique CHU de Lyon-GH Est, Lyon, France.
  • Ernst C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Campeau PM; Department of Psychiatry, McGill University, Montreal, QC, Canada.
Genet Med ; 21(5): 1058-1064, 2019 05.
Article em En | MEDLINE | ID: mdl-30245510
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article