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Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.
Cappuccio, Gerarda; Pinelli, Michele; Torella, Annalaura; Alagia, Marianna; Auricchio, Renata; Staiano, Annamaria; Nigro, Vincenzo; Brunetti-Pierri, Nicola.
Afiliação
  • Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
  • Pinelli M; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Torella A; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
  • Alagia M; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Auricchio R; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Staiano A; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, University of Campania 'Luigi Vanvitelli', Naples, Italy.
  • Nigro V; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
  • Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
Am J Med Genet A ; 173(10): 2743-2746, 2017 Oct.
Article em En | MEDLINE | ID: mdl-28767192
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dermatopatias / Distonina / Mutação / Doenças do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dermatopatias / Distonina / Mutação / Doenças do Sistema Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article