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Paper Details

First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations.
European Journal of Endocrinology
10
2020
/, DEHAL1, DH, DUOX2, DUOXA2, IYD, NIS, NIS mutations, PDS, Patient, SLC26A4, SLC5A5, TG, TPO, TPO mutations, antenatal goiter, c., c.1546C, c.1546C>T, c.52G>A, congenital hypothyroidism, dyshormonogenesis, epithelial hyperplasia, exon 1, exon 13, fetal goiter, fetal goitrous hypothyroidism, fetal hypothyroidism, fibrosis, goiter, humans, in exon, iodide, levothyroxine, mRNA, p.G18R, p.R516X, patient, patients, thyrocytes
Author NameAffiliation
Patrick NitschkeIMAGINE Institute, Paris Descartes University
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Datasets

Release 1.2