Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome.

Splittstoesser, Vera; Vollbach, Heike; Plamper, Michaela; Garbe, Werner; De Franco, Elisa; Houghton, Jayne A L; Dueker, Gesche; Ganschow, Rainer; Gohlke, Bettina; Schreiner, Felix

Splittstoesser, Vera; Vollbach, Heike; Plamper, Michaela; Garbe, Werner; De Franco, Elisa; Houghton, Jayne A L; Dueker, Gesche; Ganschow, Rainer; Gohlke, Bettina; Schreiner, Felix.

Afiliação

Splittstoesser V; Pediatric Endocrinology Division, Children's Hospital, University of Bonn, Bonn, Germany.
Vollbach H; Pediatric Endocrinology Division, Children's Hospital, University of Bonn, Bonn, Germany.
Plamper M; Pediatric Endocrinology Division, Children's Hospital, University of Bonn, Bonn, Germany.
Garbe W; Department of Neonatology, St. Marien-Hospital, Bonn, Germany.
De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.
Houghton JAL; Genomics Laboratory, Royal Devon & Exeter Hospital, Exeter, United Kingdom.
Dueker G; Division of Pediatric Gastroenterology and Hepatology, Children's Hospital, University of Bonn, Bonn, Germany.
Ganschow R; Division of Pediatric Gastroenterology and Hepatology, Children's Hospital, University of Bonn, Bonn, Germany.
Gohlke B; Pediatric Endocrinology Division, Children's Hospital, University of Bonn, Bonn, Germany.
Schreiner F; Pediatric Endocrinology Division, Children's Hospital, University of Bonn, Bonn, Germany.

Front Endocrinol (Lausanne) ; 12: 665336, 2021.

Article em En | MEDLINE | ID: mdl-33935973

Assuntos

Hipotireoidismo Congênito/patologia; Proteínas de Ligação a DNA/genética; Diabetes Mellitus/patologia; Mutação; Fenótipo; Proteínas Repressoras/genética; Transativadores/genética; Hipotireoidismo Congênito/genética; Diabetes Mellitus/genética; Humanos; Lactente; Masculino; Prognóstico

Palavras-chave

GLIS3; anemia; cholestasis; exocrine pancreatic insufficiency; megalocornea; neonatal diabetes

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas Repressoras / Transativadores / Hipotireoidismo Congênito / Diabetes Mellitus / Proteínas de Ligação a DNA / Mutação Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Revista: Front Endocrinol (Lausanne) Ano de publicação: 2021 Tipo de documento: Article

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