Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in <i>TSHB</i>: A Case Report.

Lauffer, Peter; Bikker, Hennie; Boelen, Anita; Jöbsis, Jasper J; van Trotsenburg, A S Paul; Zwaveling-Soonawala, Nitash

Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB: A Case Report.

Lauffer, Peter; Bikker, Hennie; Boelen, Anita; Jöbsis, Jasper J; van Trotsenburg, A S Paul; Zwaveling-Soonawala, Nitash.

Afiliação

Lauffer P; Department of Pediatric Endocrinology, Emma Children's Hospital; University of Amsterdam, Amsterdam, The Netherlands.
Bikker H; Department of Clinical Genetics; University of Amsterdam, Amsterdam, The Netherlands.
Boelen A; Endocrine Laboratory; Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.
Jöbsis JJ; Department of Pediatrics, OLVG Hospital, Amsterdam, The Netherlands.
van Trotsenburg ASP; Department of Pediatric Endocrinology, Emma Children's Hospital; University of Amsterdam, Amsterdam, The Netherlands.
Zwaveling-Soonawala N; Department of Pediatric Endocrinology, Emma Children's Hospital; University of Amsterdam, Amsterdam, The Netherlands.

Thyroid ; 32(4): 472-474, 2022 04.

Article em En | MEDLINE | ID: mdl-35102753

Assuntos

Hipotireoidismo Congênito; Hipotireoidismo Congênito/diagnóstico; Hipotireoidismo Congênito/genética; Feminino; Homozigoto; Humanos; Recém-Nascido; Triagem Neonatal; Valores de Referência; Testes de Função Tireóidea; Hormônios Tireóideos; Tiroxina/uso terapêutico

Palavras-chave

TSHß; isolated central congenital hypothyroidism; protein modeling

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hipotireoidismo Congênito Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Newborn Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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