Cargando…
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population
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...
Autores principales: | 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 |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Society for Laboratory Medicine
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4713848/ https://www.ncbi.nlm.nih.gov/pubmed/26709262 http://dx.doi.org/10.3343/alm.2016.36.2.145 |
Ejemplares similares
-
Clinical and molecular characteristics of congenital hypothyroidism with DUOX2 mutations
por: Kim, Yoo-Mi, et al.
Publicado: (2013) -
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism
por: Aycan, Zehra, et al.
Publicado: (2017) -
Clinical Characteristics and Features of Frequent Idiopathic Ventricular Premature Complexes in the Korean Population
por: Hwang, Jin Kyung, et al.
Publicado: (2015) -
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening
por: Park, Kyoung-Jin, et al.
Publicado: (2016) -
DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients
por: Sorapipatcharoen, Kinnaree, et al.
Publicado: (2020)