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Mosaic EGFR exon 20 in-frame insertion pathogenic variants are associated with papular epidermal nevus with "skyline" basal cell layer (PENS).
Bessis, Didier; Poujade, Laura; Cossée, Mireille; Boursier, Guilaine; Barat-Houari, Mouna; Tharreau, Mylene; Durand, Luc; Aguilar, Simon Cabello; Solassol, Jérome; Willems, Marjolaine; Vendrell, Julie.
Afiliação
  • Bessis D; Department of Dermatology and Reference Center for Rare Skin Diseases (MAGEC), Saint-Eloi Hospital, University of Montpellier and INSERM U1058, Montpellier, France.
  • Poujade L; Department of Dermatology and Reference Center for Rare Skin Diseases (MAGEC), Saint-Eloi Hospital, University of Montpellier and INSERM U1058, Montpellier, France.
  • Cossée M; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France.
  • Boursier G; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Genetic Diseases, CeRéMAIA, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.
  • Barat-Houari M; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Genetic Diseases, CeRéMAIA, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.
  • Tharreau M; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Genetic Diseases, CeRéMAIA, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.
  • Durand L; Department of Pathology, Saint-Eloi Hospital and University of Montpellier, Montpellier, France.
  • Aguilar SC; Laboratory of Solid Tumor Biology, Department of Pathology and Oncology, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.
  • Solassol J; Laboratory of Solid Tumor Biology, Department of Pathology and Oncology, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.
  • Willems M; Department of Medical Genetics, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.
  • Vendrell J; Laboratory of Solid Tumor Biology, Department of Pathology and Oncology, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.
Br J Dermatol ; 2024 Jun 03.
Article em En | MEDLINE | ID: mdl-38828639

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article