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Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.
Gayden, Tenzin; Crevier-Sorbo, Gabriel; Jawhar, Wajih; Saint-Martin, Christine; Eveleigh, Robert; Gilardino, Mirko S; Anastasio, Natascia; Trakadis, Yannis; Bassenden, Angelia V; Berghuis, Albert M; Jabado, Nada; Dudley, Roy W R.
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  • Gayden T; 1Division of Experimental Medicine, McGill University, Montréal.
  • Crevier-Sorbo G; 2Department of Pediatric Surgery, Division of Neurosurgery, Montreal Children's Hospital, McGill University Health Centre Research Institute, Montréal.
  • Jawhar W; 1Division of Experimental Medicine, McGill University, Montréal.
  • Saint-Martin C; 3Department of Radiology, Montreal Children's Hospital, McGill University, Montréal.
  • Eveleigh R; 1Division of Experimental Medicine, McGill University, Montréal.
  • Gilardino MS; 4Division of Plastic and Reconstructive Surgery, McGill University, Montréal.
  • Anastasio N; 5Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University, Montréal; and.
  • Trakadis Y; 5Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University, Montréal; and.
  • Bassenden AV; 6Department of Biochemistry, McGill University, Montréal, Québec, Canada.
  • Berghuis AM; 6Department of Biochemistry, McGill University, Montréal, Québec, Canada.
  • Jabado N; 1Division of Experimental Medicine, McGill University, Montréal.
  • Dudley RWR; 2Department of Pediatric Surgery, Division of Neurosurgery, Montreal Children's Hospital, McGill University Health Centre Research Institute, Montréal.
J Neurosurg Pediatr ; 31(6): 584-592, 2023 06 01.
Article en En | MEDLINE | ID: mdl-36905673
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Craneosinostosis / Canalopatías Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans Idioma: En Revista: J Neurosurg Pediatr Asunto de la revista: NEUROCIRURGIA / PEDIATRIA Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Craneosinostosis / Canalopatías Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans Idioma: En Revista: J Neurosurg Pediatr Asunto de la revista: NEUROCIRURGIA / PEDIATRIA Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos