DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population

@inproceedings{Park2016DUOX2MA,
  title={DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population},
  author={Kyoung-Jin Park and Hyun-Kyung Park and Young-Jin Kim and Kyoung Ryul Lee and Jong-Ho Park and June-Hee Park and Hyun Dong Park and Sang Guk Lee and Jong-Won Kim},
  booktitle={Annals of laboratory medicine},
  year={2016}
}
BACKGROUND Most cases with congenital hypothyroidism (CH) are usually sporadic, while about 20% of the cases are caused by genetic defects. Little information is available regarding the mutation incidence and genetic heterogeneity of CH in Koreans. We aimed to determine the mutation incidence of CH in newborn screenings (NBS) and to evaluate the frequency and spectrum of mutations underlying CH. METHODS A total of 112 newborns with thyroid dysfunction were enrolled from 256,624 consecutive… CONTINUE READING

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