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Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Natera-de Benito, Daniel; Jurgens, Julie A; Yeung, Alison; Zaharieva, Irina T; Manzur, Adnan; DiTroia, Stephanie P; Di Gioia, Silvio Alessandro; Pais, Lynn; Pini, Veronica; Barry, Brenda J; Chan, Wai-Man; Elder, James E; Christodoulou, John; Hay, Eleanor; England, Eleina M; Munot, Pinki; Hunter, David G; Feng, Lucy; Ledoux, Danielle; O'Donnell-Luria, Anne; Phadke, Rahul; Engle, Elizabeth C; Sarkozy, Anna; Muntoni, Francesco.
Afiliación
  • Natera-de Benito D; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK.
  • Jurgens JA; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Yeung A; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Zaharieva IT; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Manzur A; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA.
  • DiTroia SP; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Di Gioia SA; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Pais L; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK.
  • Pini V; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK.
  • Barry BJ; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Chan WM; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Elder JE; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Christodoulou J; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Hay E; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • England EM; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK.
  • Munot P; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Hunter DG; Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
  • Feng L; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Ledoux D; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • O'Donnell-Luria A; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Phadke R; Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
  • Engle EC; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Sarkozy A; Department of Ophthalmology, Royal Childrens's Hospital, Parkville, Victoria, Australia.
  • Muntoni F; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Hum Mutat ; 43(4): 487-498, 2022 04.
Article en En | MEDLINE | ID: mdl-35077597
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Artrogriposis Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Artrogriposis Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos