Associated Papers
Identification of a Novel Nonsense Mutation in the IGSF1 Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family.
Ruta R et al.
Children (basel, Switzerland), 2025
Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan.
Shibata N et al.
Endocrine Journal, 2024
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
Fourneaux R et al.
European Journal of Endocrinology, 2022
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