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Thyroid : Official Journal of the American Thyroid Association|July 5, 2016
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient CohortChristoffer Löf, Konrad Patyra, Teemu Kuulasmaa, et al.Thyroid : Official Journal of the American Thyroid Association|January 19, 2022
Congenital Hypothyroidism and Hyperthyroidism Alters Adrenal Gene Expression, Development, and FunctionKonrad Patyra, Christoffer Löf, Holger Jaeschke, et al.JCI Insight|January 9, 2024
Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin modelKristiina Makkonen, Meeri Jännäri, Luís Crisóstomo, et al.JCI Insight|October 19, 2018
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidismHakan Cangul, Xiao-Hui Liao, Erik Schoenmakers, et al.Pageof 3