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Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.
Casas-Alba, Dídac; Martínez-Monseny, Antonio; Pino-Ramírez, Rosa M; Alsina, Laia; Castejón, Esperanza; Navarro-Vilarrubí, Sergi; Pérez-Dueñas, Belén; Serrano, Mercedes; Palau, Francesc; García-Alix, Alfredo.
Afiliação
  • Casas-Alba D; Department of Pediatrics, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Martínez-Monseny A; Department of Genetic and Molecular Medicine, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Pino-Ramírez RM; Department of Genetic and Molecular Medicine, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Alsina L; Department of Pediatrics, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Castejón E; Department of Pediatric Allergy and Clinical Immunology, Hospital Sant Joan de Déu, University of Barcelona, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
  • Navarro-Vilarrubí S; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Pérez-Dueñas B; Department of Pediatric Palliative Care, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Serrano M; Department of Pediatric Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
  • Palau F; Department of Pediatric Neurology, Vall d'Hebron Hospital and Research Institute, Barcelona, Spain.
  • García-Alix A; Department of Genetic and Molecular Medicine, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Hum Mutat ; 39(12): 1752-1763, 2018 12.
Article em En | MEDLINE | ID: mdl-30176098
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 3_ND Base de dados: MEDLINE Assunto principal: Receptores de Peptídeos / Mutação de Sentido Incorreto / Síndrome da Fibromatose Hialina Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 3_ND Base de dados: MEDLINE Assunto principal: Receptores de Peptídeos / Mutação de Sentido Incorreto / Síndrome da Fibromatose Hialina Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Ano de publicação: 2018 Tipo de documento: Article