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Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Green, Timothy E; Motelow, Joshua E; Bennett, Mark F; Ye, Zimeng; Bennett, Caitlin A; Griffin, Nicole G; Damiano, John A; Leventer, Richard J; Freeman, Jeremy L; Harvey, A Simon; Lockhart, Paul J; Sadleir, Lynette G; Boys, Amber; Scheffer, Ingrid E; Major, Heather; Darbro, Benjamin W; Bahlo, Melanie; Goldstein, David B; Kerrigan, John F; Heinzen, Erin L; Berkovic, Samuel F; Hildebrand, Michael S.
Affiliation
  • Green TE; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
  • Motelow JE; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
  • Bennett MF; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
  • Ye Z; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052, Australia.
  • Bennett CA; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3052, Australia.
  • Griffin NG; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
  • Damiano JA; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
  • Leventer RJ; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
  • Freeman JL; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
  • Harvey AS; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Lockhart PJ; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Sadleir LG; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Boys A; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Scheffer IE; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Major H; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Darbro BW; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Bahlo M; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Goldstein DB; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Kerrigan JF; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Heinzen EL; Department of Paediatrics and Child Health, University of Otago, Wellington 6242, New Zealand.
  • Berkovic SF; Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia.
  • Hildebrand MS; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
Hum Mol Genet ; 31(14): 2307-2316, 2022 07 21.
Article in En | MEDLINE | ID: mdl-35137044
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ciliopathies / Hamartoma / Hypothalamic Diseases Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Australia
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ciliopathies / Hamartoma / Hypothalamic Diseases Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Australia