Article
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.
The Journal of clinical endocrinology and metabolism - 1 Nov 2008
Maruo Yoshihiro, Takahashi Hiroko, Soeda Ikumi, Nishikura Noriko, Matsui Katsuyuki, Ota Yoriko, Mimura Yu, Mori Asami, Sato Hiroshi, Takeuchi Yoshihiro
Abstract excerpt
CONTEXT: Mutations in dual oxidase (DUOX2) have been proposed as a cause of congenital hypothyroidism. Previous reports suggest that biallelic mutations of DUOX2 cause permanent congenital hypothyroidism and that monoallelic mutations cause transient congenital hypothyroidism. OBJECTIVE: To clarify the inheritance of hypothyroidism, we looked at the DUOX2 gene in patients with transient congenital hypothyroidism....
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