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When extended genetics rescues diagnosis: a patient with CANDLE-like phenotype and de novo mutation in the SAMD9L gene.
Remy, Amandine; Borocco, Charlotte; Sarrabay, Guillaume; Boursier, Guilaine; Fraitag, Sylvie; Catteau, Benoit; Reumaux, Héloise; Koné-Paut, Isabelle.
Afiliação
  • Remy A; Pediatric Emergency, Infectious Diseases and Rheumatology Department, CHU Lille, University of Lille, Lille, France amandine_remy_57@hotmail.fr.
  • Borocco C; Pediatric Rheumatology Department, Reference Centre for Autoinflammatory Diseases and Amyloidosis (CEREMAIA), Bicêtre hospital, AP-HP, university of Paris Saclay, Le Kremlin-Bicêtre, France.
  • Sarrabay G; University of Paris Saclay, Paris, France.
  • Boursier G; Laboratory of Rare and Autoinflammatory Genetic Diseases and Reference Centre for Autoinflammatory Diseases and Amyloidosis (CEREMAIA), CHU Montpellier, University of Montpellier, Montpellier, France.
  • Fraitag S; Laboratory of Rare and Autoinflammatory Genetic Diseases and Reference Centre for Autoinflammatory Diseases and Amyloidosis (CEREMAIA), CHU Montpellier, University of Montpellier, Montpellier, France.
  • Catteau B; Pathology Department Paris, France, CHU Necker-Enfants Malades, AP-HP, Paris, France.
  • Reumaux H; Dermatology Department, CHU Lille, University of Lille, Lille, France.
  • Koné-Paut I; Pediatric Emergency, Infectious Diseases and Rheumatology Department, CHU Lille, University of Lille, Lille, France.
Ann Rheum Dis ; 81(3): 447-448, 2022 03.
Article em En | MEDLINE | ID: mdl-34848396
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Proteínas Supressoras de Tumor Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Ann Rheum Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Proteínas Supressoras de Tumor Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Ann Rheum Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França