Article
Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
Archives of endocrinology and metabolism - 1 Aug 2016
Fu Chunyun, Zheng Haiyang, Zhang Shujie, Chen Yun, Su Jiasun, Wang Jin, Xie Bobo, Hu Xuyun, Fan Xin, Luo Jingsi, Li Chuan, Chen Rongyu, Shen Yiping, Chen Shaoke
Abstract excerpt
OBJECTIVE: Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital...
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