Article
Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism.
Twin research and human genetics : the official journal of the International Society for Twin Studies - 1 Feb 2012
Liu Shiguo, Zhang Shasha, Li Wenjie, Zhang Aiqing, Qi Fengguang, Zheng Guohua, Yan Shengli, Ma Xu
Abstract excerpt
Mutations in the thyroglobulin (TG) gene, which has an estimated incidence of approximately 1 in 100,000 new-borns, cause autosomal recessive congenital hypothyroidism. The mutational spectrum of the TG gene and the phenotype-genotype correlations have not yet fully been established. We report a compound heterozygous mutation in the TG gene in a Chinese twin family with congenital goiter and hypothyroidism. We...
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