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NKX2.1 run-on mutation associated to familial brain-lung-thyroid syndrome.
Cavaliere, Elena; Gortan, Anna Jolanda; Passon, Nadia; Fabbro, Dora; Marin, Dario; Carecchio, Miryam; Baldan, Federica; Credendino, Sara Carmela; Gallo, Rosa; Cogo, Paola; Damante, Giuseppe; De Vita, Gabriella.
Afiliação
  • Cavaliere E; Academic Hospital of Udine, Udine, Italy.
  • Gortan AJ; Academic Hospital of Udine, Udine, Italy.
  • Passon N; Academic Hospital of Udine, Udine, Italy.
  • Fabbro D; Academic Hospital of Udine, Udine, Italy.
  • Marin D; Academic Hospital of Udine, Udine, Italy.
  • Carecchio M; Department of Neuroscience, University of Padua, Padua, Italy.
  • Baldan F; Department of Medicine, University of Udine, Udine, Italy.
  • Credendino SC; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.
  • Gallo R; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.
  • Cogo P; Academic Hospital of Udine, Udine, Italy.
  • Damante G; Department of Medicine, University of Udine, Udine, Italy.
  • De Vita G; Academic Hospital of Udine, Udine, Italy.
Clin Genet ; 100(1): 114-116, 2021 07.
Article em En | MEDLINE | ID: mdl-33778944

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome do Desconforto Respiratório do Recém-Nascido / Atetose / Coreia / Hipotireoidismo Congênito / Fator Nuclear 1 de Tireoide / Mutação Tipo de estudo: Risk_factors_studies Limite: Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome do Desconforto Respiratório do Recém-Nascido / Atetose / Coreia / Hipotireoidismo Congênito / Fator Nuclear 1 de Tireoide / Mutação Tipo de estudo: Risk_factors_studies Limite: Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália