A case of congenital autonomous thyroid adenoma with a somatic activating gene mutation in the thyroid-stimulating hormone receptor

• Главные авторы: Kotaro Tomonaga (Автор), Kazunori Tahara (Автор), Toshihiko Watanabe (Автор), Michinobu Ohno (Автор), Katsuhiro Ogawa (Автор), Mai Kutsukake (Автор), Akihiro Fujino (Автор), Tomoro Hishiki (Автор), Kenichi Kinjyo (Автор), Reiko Horikawa (Автор), Noriyuki Katsumata (Автор), Yutaka Kanamori (Автор)
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• Опубликовано: Elsevier, 2018-11-01T00:00:00Z.
• Предметы: article
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We report here a male case of autonomous adenoma (AA) in the thyroid that was caused by a somatic heterozygous mutation in the thyroid-stimulating hormone receptor (TSHR) gene at codon 453, which encodes the second transmembrane domain of the protein. This activating mutation of TSHR induced an incr...