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Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study.
Bezdicka M, Kleiblova P, Soucek J, Borecka M, El-Lababidi E, Smrz D, Rataj M, Sumnik Z, Malikova J, Soucek O. Bezdicka M, et al. Hormones (Athens). 2021 Dec;20(4):803-812. doi: 10.1007/s42000-021-00299-x. Epub 2021 Jun 18. Hormones (Athens). 2021. PMID: 34142359 Review.
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