Transient Congenital Hypothyroidism Caused by Biallelic Mutations of the Dual Oxidase 2 Gene in Japanese Patients Detected by a Neonatal Screening Program | Zendy

Yoshihiro Maruo | Zendy; Hiroko Takahashi | Zendy; Ikumi Soeda | Zendy; Noriko Nishikura | Zendy; Katsuyuki Matsui | Zendy; Yoriko Ota | Zendy; Yu Mimura | Zendy; Asami Mori | Zendy; Hiroshi Satō | Zendy; Yoshihiro Takeuchi | Zendy

Open Access

Transient Congenital Hypothyroidism Caused by Biallelic Mutations of the Dual Oxidase 2 Gene in Japanese Patients Detected by a Neonatal Screening Program

Author(s) -

Yoshihiro Maruo,

Hiroko Takahashi,

Ikumi Soeda,

Noriko Nishikura,

Katsuyuki Matsui,

Yoriko Ota,

Yu Mimura,

Asami Mori,

Hiroshi Satō,

Yoshihiro Takeuchi

Publication year - 2008

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2008-0856

Subject(s) - congenital hypothyroidism , transient (computer programming) , medicine , gene , newborn screening , genetics , pediatrics , biology , thyroid , computer science , operating system

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.

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