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Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
Moreno, Carolina Araujo; Metze, Konradin; Lomazi, Elizete Aparecida; Bertola, Débora Romeo; Barbosa, Ricardo Henrique Almeida; Cosentino, Viviana; Sobreira, Nara; Cavalcanti, Denise Pontes.
Afiliação
  • Moreno CA; Faculty of Medical Sciences, Departmentof Medical Genetics, State University of Campinas, Campinas, Brazil.
  • Metze K; Faculty of Medical Sciences, Department of Pathology, State University of Campinas, Campinas, Brazil.
  • Lomazi EA; Faculty of Medical Sciences, Department of Pediatrics, State University of Campinas, Campinas, Brazil.
  • Bertola DR; Genetic Unit, Faculty of Medicine, Children's Institute, University of São Paulo, São Paulo, Brazil.
  • Barbosa RH; Department of Morphology, Medical Genetics Center, Federal University of São Paulo, São Paulo, Brazil.
  • Cosentino V; CEMIC (Center for Medical Education and Clinical Research), Buenos Aires, Argentina.
  • Sobreira N; Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Cavalcanti DP; Faculty of Medical Sciences, Departmentof Medical Genetics, State University of Campinas, Campinas, Brazil. denisepcavalcanti@gmail.com.
Am J Med Genet A ; 170(11): 2965-2974, 2016 11.
Article em En | MEDLINE | ID: mdl-27481187

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pseudo-Obstrução Intestinal Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Brasil

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pseudo-Obstrução Intestinal Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Brasil