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De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.
Ragamin, Aviel; Gomes, Carolina C; Bindels-de Heus, Karen; Sandoval, Renata; Bassenden, Angelia V; Dib, Luciano; Kok, Fernando; Alves, Julieta; Mathijssen, Irene; Medici-Van den Herik, Evita; Eveleigh, Robert; Gayden, Tenzin; Pullens, Bas; Berghuis, Albert; van Slegtenhorst, Marjon; Wilke, Martina; Jabado, Nada; Mancini, Grazia Maria Simonetta; Gomez, Ricardo Santiago.
Afiliación
  • Ragamin A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Gomes CC; Department of Pathology, Biological Sciences Institute, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil.
  • Bindels-de Heus K; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Sandoval R; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Bassenden AV; Oncogenetics, Hospital Sírio-Libanês, Brasília, Hospital Sirio-Libanes, Sao Paulo, Brazil.
  • Dib L; Department of Biochemistry, McGill University, Montreal, Quebec, Canada.
  • Kok F; Post Graduation Program, School of Dentistry, Paulista University (UNIP), Sao Paulo, Brazil.
  • Alves J; Department of Neurology, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Mathijssen I; Division of Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Medici-Van den Herik E; Department of Plastic and Reconstructive Surgery, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Eveleigh R; Department of Child Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Gayden T; Canadian Centre for Computational Genomics (C3G), Montreal, Québec, Canada.
  • Pullens B; McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada.
  • Berghuis A; Department of Human Genetics, McGill University Faculty of Medicine, Montreal, Québec, Canada.
  • van Slegtenhorst M; Department of Otorhinolaryngology and Head and Neck Surgery, Erasmus MC University Medical Center, Rotterdam, Zuid-Holland, The Netherlands.
  • Wilke M; Department of Biochemistry, McGill University, Montreal, Quebec, Canada.
  • Jabado N; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Gomez RS; Department of Human Genetics, McGill University Faculty of Medicine, Montreal, Québec, Canada.
J Med Genet ; 59(3): 305-312, 2022 03.
Article en En | MEDLINE | ID: mdl-33685999
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Polineuropatías / Canales de Potencial de Receptor Transitorio / Canalopatías Tipo de estudio: Etiology_studies Límite: Female / Humans Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
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PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Polineuropatías / Canales de Potencial de Receptor Transitorio / Canalopatías Tipo de estudio: Etiology_studies Límite: Female / Humans Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos