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Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.
Alankarage, Dimuthu; Enriquez, Annabelle; Steiner, Robert D; Raggio, Cathy; Higgins, Megan; Milnes, Di; Humphreys, David T; Duncan, Emma L; Sparrow, Duncan B; Giampietro, Philip F; Chapman, Gavin; Dunwoodie, Sally L.
Afiliación
  • Alankarage D; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia.
  • Enriquez A; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, 2052, Australia.
  • Steiner RD; Marshfield Clinic Health System, Marshfield, WI, 54449, USA; University of Wisconsin School of Medicine and Public Health, Madison, WI, 53792, USA.
  • Raggio C; Hospital for Special Surgery, Pediatrics Orthopedic Surgery, New York, NY, 10021, USA.
  • Higgins M; Royal Brisbane and Women's Hospital, Butterfield St, Brisbane, QLD, 4072, Australia; University of Queensland, Brisbane, QLD, 4072, Australia.
  • Milnes D; Royal Brisbane and Women's Hospital, Butterfield St, Brisbane, QLD, 4072, Australia.
  • Humphreys DT; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, 2052, Australia.
  • Duncan EL; Department of Twin Research & Genetic Epidemiology, Faculty of Life Sciences and Medicine, School of Life Course Sciences, King's College London, London, SE1 7EH, UK; Australian Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Tran
  • Sparrow DB; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, 2052, Australia; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, OX1 3PT, UK.
  • Giampietro PF; Department of Pediatrics, University of Illinois-Chicago, Chicago, IL, 60612, USA.
  • Chapman G; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, 2052, Australia.
  • Dunwoodie SL; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, 2052, Australia; Faculty of Science, University of New South Wales, Sydney, NSW, 2052, Australia. Electronic address: S.Dunw
Differentiation ; 128: 1-12, 2022.
Article en En | MEDLINE | ID: mdl-36194927

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Deformidades Congénitas de la Mano / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Differentiation Año: 2022 Tipo del documento: Article País de afiliación: Australia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Deformidades Congénitas de la Mano / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Differentiation Año: 2022 Tipo del documento: Article País de afiliación: Australia