Article
PAX8 mutation disturbing thyroid follicular growth: a case report.
The Journal of clinical endocrinology and metabolism - 1 Dec 2011
Narumi Satoshi, Yoshida Akira, Muroya Koji, Asakura Yumi, Adachi Masanori, Fukuzawa Ryuji, Kameyama Kaori, Hasegawa Tomonobu
Abstract excerpt
CONTEXT: Heterozygous inactivating PAX8 mutations cause congenital hypothyroidism. Although more than 30 mutation carriers have been reported, no histological examination of the thyroid has been conducted. OBJECTIVE: The objective of this study was to document the histological characteristics of the thyroid tissue harboring a PAX8 mutation. SUBJECTS AND METHODS: The patient was a 40-yr-old female, whose two...
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