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Yearbook of Paediatric Endocrinology 2021

3. Thyroid

Follow-up paper from the 2018 Yearbook

ey0018.3-7 | Follow-up paper from the 2018 Yearbook | ESPEYB18

3.7. A Novel homozygous mutation in the solute carrier family 26 member 7 gene causes thyroid dyshormonogenesis in a girl with congenital hypothyroidism

P Hermanns , C Claszen , J Pohlenz

Thyroid. 2020;30:1831–1833. doi: 10.1089/thy.2020.0293.Every year, we report on new genes that have been associated with congenital hypothyroidism. But it is the first time in all these years that, following the first description, other groups from different continents confirm the first reports in independent cohorts in such a short time after publication.This is ...