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Article

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

Annals of laboratory medicine - 1 Mar 2016

Park Kyoung-Jin, Park Hyun-Kyung, Kim Young-Jin, Lee Kyoung-Ryul, Park Jong-Ho, Park June-Hee, Park Hyung-Doo, Lee Soo-Youn, Kim Jong-Won

Abstract excerpt

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...

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Source

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Identifiers

PMID: 26709262
DOI: 10.3343/alm.2016.36.2.145
PMCID: PMC4713848

Genes

DUOX2
DUOXA2
TSHR
PAX8
TPO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.PMID 26709262Read ↗

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The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou.Semantic proximity Read ↗

The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.Semantic proximity Read ↗

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