Article
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.
The Journal of clinical endocrinology and metabolism - 1 Dec 2009
Niu Dau-Ming, Hsu Ju-Hui, Chong Kah-Wai, Huang Cheng-Hung, Lu Yung-Hsiu, Kao Chuan-Hong, Yu Hsiao-Chi, Lo Ming-Yu, Jap Tjin-Shing
Abstract excerpt
BACKGROUND: Thyroglobulin (TG) defect is a rare cause of congenital hypothyroidism. Although only 44 mutations of the human TG gene have been identified, we have suspected a TG defect in 38% of Taiwan Chinese children/adolescents presenting with moderate or severe thyroidal dyshormonogenesis. STUDY OBJECTIVE: The aim of the study is to report the discovery of new TG gene mutations and associated clinical...
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