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Background and Aim: Biallelic thyroglobulin (TG) gene variants can cause congenital hypothyroidism (CH), usually presenting with neonatal goiter and permanent in duration. In cases where biallelic truncating TG variants are present, serum TG levels are undetectable, while monoallelic or biallelic missense mutations manifest with circulating TG.
Nauwynck, Elise +8 more
openaire +3 more sources
Nauwynck, Elise +8 more
openaire +3 more sources
Permanent and Transient Congenital Hypothyroidism in Preterm Infants
Acta Paediatrica, International Journal of Paediatrics, 2012Timothy D Cheetham, Steve Turner
exaly

