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- W2070394038 abstract "A 3-year-old girl had global developmental delay with dysmorphic facies. In addition, she was found to have congenital hypothyroidism. In view of the associated dysmorphism, a karyotype analysis was done. It revealed a novel translocation mutation, 46XX t(1;14) (p22;q32). The association of this mutation with congenital hypothyroidism has been postulated in our case report. To the best of our knowledge, this mutation has never been described before in cases of congenital hypothyroidism." @default.
- W2070394038 created "2016-06-24" @default.
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- W2070394038 date "2013-01-01" @default.
- W2070394038 modified "2023-09-26" @default.
- W2070394038 title "A novel mutation in thyrotropin (thyroid-stimulating hormone) gene in congenital hypothyroidism" @default.
- W2070394038 cites W1493582161 @default.
- W2070394038 doi "https://doi.org/10.1515/jpem-2012-0242" @default.
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