Ontology highlight
ABSTRACT:
SUBMITTER: Park KJ
PROVIDER: S-EPMC4713848 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Park Kyoung-Jin KJ Park Hyun-Kyung HK Kim Young-Jin YJ Lee Kyoung-Ryul KR Park Jong-Ho JH Park June-Hee JH Park Hyung-Doo HD Lee Soo-Youn SY Kim Jong-Won JW
Annals of laboratory medicine 20160301 2
<h4>Background</h4>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.<h4>Methods</h4>A total of 112 newborns with thyroid dysfunction were enrolled from 256,624 co ...[more]