Article
[Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jan 2017
Tan Min-Yi, Huang Yong-Lan, Li Bei, Jiang Xiang, Chen Qian-Yu, Jia Xue-Fang, Tang Cheng-Fang, Liu Li
Abstract excerpt
OBJECTIVE: To investigate the characteristics of DUOXA2 gene mutation and the genotype-phenotype relationship in children with congenital hypothyroidism (CH) in Guangzhou, China. METHODS: A total of 20 CH patients with suspected thyroid dyshormonogenesis who had no DUOX2 gene mutation were enrolled. These patients who were born between 2011 and 2012 were screened and diagnosed with CH in the Guangzhou Newborn...
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