Associated Papers
Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas.
Meulebrouck S et al.
Diabetologia, 2024
38051360 (PubMed )
Supplement: 125_2023_6035_MOESM1_ESM.pdf
Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism.
Gentilini D et al.
Journal of Endocrinological Investigation, 2023
Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?
Medda E et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Sequencing reveals protective and pathogenic effects on development of diabetes of rare GLIS3 variants.
Sun J et al.
Plos One, 2019
A frequent oligogenic involvement in congenital hypothyroidism.
de Filippis T et al.
Human Molecular Genetics, 2017
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