Article
Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants.
Thyroid : official journal of the American Thyroid Association - 1 Jul 2024
Uehara Erika, Abe Kiyomi, Tanase-Nakao Kanako, Muroya Koji, Hattori Atsushi, Matsubara Keiko, Fukami Maki, Narumi Satoshi
Abstract excerpt
Background: DUOX2 is one of the major causative genes of congenital hypothyroidism (CH). Still, the mutation spectrum and clinical outcomes of biallelic DUOX2 variants are not fully understood. This study aimed to elucidate the molecular features and long-term clinical manifestations of CH caused by multiple pathogenic DUOX2 variants. Methods: A total of 255 patients with CH were screened for rare variants of 11...
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