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Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.
Fourneaux, Rachel; Castets, Sarah; Godefroy, Alice; Grelet, Maude; Abeillon-du Payrat, Juliette; Saveanu, Alexandru; Castinetti, Frederic; Reynaud, Rachel.
Affiliation
  • Fourneaux R; Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Institut Marseille Maladies Rares (MarMaRa), Aix-Marseille Université, Marseille, France.
  • Castets S; Assistance Publique-Hôpitaux de Marseille (APHM), Department of Endocrinology, Hôpital de la Conception, Centre de Référence des Maladies Rares de l'hypophyse HYPO, Marseille, France.
  • Godefroy A; Department of Multidisciplinary Peadiatrics, Centre de Référence des Maladies Rares d'origine hypophysaire HYPO, Hôpital Timone-Enfants, APHM, Marseille, France.
  • Grelet M; Department of General Peadiatrics, Hôpital Saint Joseph, Marseille, France.
  • Abeillon-du Payrat J; Department of Genetics, Centre Hospitalier Sainte Musse, Toulon, France.
  • Saveanu A; Fédération d'Endocrinologie, Groupement Hospitalier Est, Hospices Civils de Lyon, Lyon, France.
  • Castinetti F; Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Institut Marseille Maladies Rares (MarMaRa), Aix-Marseille Université, Marseille, France.
  • Reynaud R; Laboratory of Molecular Biology, CHU Conception, Assistance Publique-Hôpitaux de Marseille (APHM), Marseille, France.
Horm Res Paediatr ; 95(3): 296-303, 2022.
Article in En | MEDLINE | ID: mdl-35350016
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Immunoglobulins / Congenital Hypothyroidism Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: Horm Res Paediatr Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2022 Document type: Article Affiliation country: France Country of publication: Switzerland
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Immunoglobulins / Congenital Hypothyroidism Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Male / Newborn Language: En Journal: Horm Res Paediatr Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2022 Document type: Article Affiliation country: France Country of publication: Switzerland