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Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.
Rodrigues, Tania Maria Barreto; Silva, Marlon Messias da Conceição; Freitas, Magali Maciel; Duarte, Zélia Maria Costa; Frutuoso, Vitória Sousa; Rodrigues, Mariana Teixeira; Rubio, Ileana Gabriela Sanchez.
Afiliação
  • Rodrigues TMB; Federal University of Juiz de Fora, Campus Governador Valadares, Governador Valadares, Brazil.
  • Silva MMDC; Thyroid Molecular Science Laboratory, Department of Biological Sciences, Federal University of São Paulo, Federal University of São Paulo (UNIFESP), Diadema, Brazil.
  • Freitas MM; Structural and Functional Biology Program, Federal University of São Paulo, UNIFESP, São Paulo, Brazil.
  • Duarte ZMC; Thyroid Molecular Science Laboratory, Department of Biological Sciences, Federal University of São Paulo, Federal University of São Paulo (UNIFESP), Diadema, Brazil.
  • Frutuoso VS; Thyroid Molecular Science Laboratory, Department of Biological Sciences, Federal University of São Paulo, Federal University of São Paulo (UNIFESP), Diadema, Brazil.
  • Rodrigues MT; Thyroid Molecular Science Laboratory, Department of Biological Sciences, Federal University of São Paulo, Federal University of São Paulo (UNIFESP), Diadema, Brazil.
  • Rubio IGS; Thyroid Molecular Science Laboratory, Department of Biological Sciences, Federal University of São Paulo, Federal University of São Paulo (UNIFESP), Diadema, Brazil.
Front Endocrinol (Lausanne) ; 12: 671659, 2021.
Article em En | MEDLINE | ID: mdl-34220711

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Autoantígenos / Hipotireoidismo Congênito / Proteínas de Ligação ao Ferro / Bócio / Iodeto Peroxidase / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male / Newborn / Pregnancy Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Autoantígenos / Hipotireoidismo Congênito / Proteínas de Ligação ao Ferro / Bócio / Iodeto Peroxidase / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male / Newborn / Pregnancy Idioma: En Ano de publicação: 2021 Tipo de documento: Article