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We identified a novel mutation (CGC to TGC) at codon 31 of the Paired box 8 gene, an important transcription factor in the development of the thyroid gland. Mutations at this codon have been independently reported in 2 cases (CGC to CAC). These transitions are considered typical CpG-consequence mutations and account for hypermutability at this position. (J Pediatr 2001;139:597-9.)
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