Výsledky vyhledávání - "Alice Godefroy"

Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family

Autor: Rachel Fourneaux, Sarah Castets, Alice Godefroy, Maude Grelet, Juliette Abeillon-du Payrat, Alexandru Saveanu, Frederic Castinetti, Rachel Reynaud

Publikováno v: Hormone Research in Paediatrics
Hormone Research in Paediatrics, 2022, 95 (3), pp.296-303. ⟨10.1159/000524233⟩

Introduction: Congenital central hypothyroidism (CCH) is a rare disorder that can be caused by X-linked mutations in the immunoglobulin superfamily member 1 (IGSF1) gene. Here, we describe four familial cases with a variable presentation due to a nov

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::902b9777b6a137323c37ccdc20e5addb
https://hal-amu.archives-ouvertes.fr/hal-04034050

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