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Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
Ma, Alan; Gurnasinghani, Sunita; Kirk, Edwin P; McClenaghan, Conor; Singh, Gautam K; Grange, Dorothy K; Pandit, Chetan; Zhu, Yung; Roscioli, Tony; Elakis, George; Buckley, Michael; Mehta, Bhavesh; Roberts, Philip; Mervis, Jonathan; Biggin, Andrew; Nichols, Colin G.
Afiliación
  • Ma A; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
  • Gurnasinghani S; Discipline of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
  • Kirk EP; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
  • McClenaghan C; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
  • Singh GK; NSW Health Pathology East Genomics Laboratory, Sydney, New South Wales, Australia.
  • Grange DK; School of Women's and Children's Health, University of NSW, Sydney, New South Wales, Australia.
  • Pandit C; Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, Missouri.
  • Zhu Y; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, Missouri.
  • Roscioli T; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
  • Elakis G; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
  • Buckley M; Department of Respiratory and Sleep Medicine, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Mehta B; NSW Health Pathology East Genomics Laboratory, Sydney, New South Wales, Australia.
  • Roberts P; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
  • Mervis J; NSW Health Pathology East Genomics Laboratory, Sydney, New South Wales, Australia.
  • Biggin A; NSW Health Pathology East Genomics Laboratory, Sydney, New South Wales, Australia.
  • Nichols CG; NSW Health Pathology East Genomics Laboratory, Sydney, New South Wales, Australia.
Am J Med Genet A ; 179(8): 1585-1590, 2019 08.
Article en En | MEDLINE | ID: mdl-31175705
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Gliburida / Cardiomegalia / Receptores de Sulfonilureas / Mutación con Ganancia de Función / Hipertricosis Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Newborn Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Gliburida / Cardiomegalia / Receptores de Sulfonilureas / Mutación con Ganancia de Función / Hipertricosis Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Newborn Idioma: En Año: 2019 Tipo del documento: Article