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De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Humbert, Jonathan; Salian, Smrithi; Makrythanasis, Periklis; Lemire, Gabrielle; Rousseau, Justine; Ehresmann, Sophie; Garcia, Thomas; Alasiri, Rami; Bottani, Armand; Hanquinet, Sylviane; Beaver, Erin; Heeley, Jennifer; Smith, Ann C M; Berger, Seth I; Antonarakis, Stylianos E; Yang, Xiang-Jiao; Côté, Jacques; Campeau, Philippe M.
Afiliación
  • Humbert J; St-Patrick Research Group in Basic Oncology, Laval University Cancer Research Center, Axe Oncologie du Centre de Recherche du Centre Hospitalier Universitaire de Quebec-Université Laval, Quebec City, QC G1R 3S3, Canada.
  • Salian S; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada.
  • Makrythanasis P; Biomedical Research Foundation of the Academy of Athens, Athens 115 27, Greece; Department of Genetic Medicine and Development, University of Geneva Medical School and Geneva University Hospitals, 1211 Geneva, Switzerland.
  • Lemire G; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada.
  • Rousseau J; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada.
  • Ehresmann S; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada.
  • Garcia T; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada.
  • Alasiri R; Rosalind and Morris Goodman Cancer Research Centre, Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada.
  • Bottani A; Service of Genetic Medicine, Geneva University Hospitals, 1211 Geneva, Switzerland.
  • Hanquinet S; Unit of Pediatric Radiology, Geneva University Hospitals, 1211 Geneva, Switzerland.
  • Beaver E; Mercy Kids Genetics, St. Louis, MO 63141, USA.
  • Heeley J; Mercy Kids Genetics, St. Louis, MO 63141, USA.
  • Smith ACM; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20894, USA.
  • Berger SI; Children's National Health System, Washington, DC 20010, USA.
  • Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical School and Geneva University Hospitals, 1211 Geneva, Switzerland.
  • Yang XJ; Rosalind and Morris Goodman Cancer Research Centre, Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada.
  • Côté J; St-Patrick Research Group in Basic Oncology, Laval University Cancer Research Center, Axe Oncologie du Centre de Recherche du Centre Hospitalier Universitaire de Quebec-Université Laval, Quebec City, QC G1R 3S3, Canada.
  • Campeau PM; Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address: p.campeau@umontreal.ca.
Am J Hum Genet ; 107(3): 564-574, 2020 09 03.
Article en En | MEDLINE | ID: mdl-32822602
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofia / Enfermedades Cerebelosas / Lisina Acetiltransferasa 5 / Discapacidad Intelectual Límite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofia / Enfermedades Cerebelosas / Lisina Acetiltransferasa 5 / Discapacidad Intelectual Límite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Canadá