The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
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| Title: | The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. |
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| Authors: | Fennell AP; Monash Genetics, Monash Health, Melbourne, Australia.; Clinical Genetics Service, Austin Health, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia., Baxter AE; Hunter Genetics, Hunter New England Health Service, Newcastle, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia., Ellaway CJ; Paediatrics North, Sydney, Australia.; Genetic Metabolic Disorders Service, The Sydney Children's Hospital Network, Sydney, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia., Forwood C; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.; Murdoch Children's Research Institute, Melbourne, Australia., Kumble S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., McKeown C; Genetic Health Service New Zealand, Wellington Hospital, Wellington, New Zealand., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia., Poke G; Genetic Health Service New Zealand, Wellington Hospital, Wellington, New Zealand., Rajagopalan S; Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia., Regan BM; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Heidelberg, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia.; The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Stutterd CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Wilkins EJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Hunter MF; Monash Genetics, Monash Health, Melbourne, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3432-3447. Date of Electronic Publication: 2022 Aug 17. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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