Ontology highlight
ABSTRACT:
SUBMITTER: Zheng X
PROVIDER: S-EPMC5447125 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Zheng Xiao X Ma Shao Gang SG Guo Man Li ML Qiu Ya Li YL Yang Liu Xue LX
Yonsei medical journal 20170701 4
The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence of heterozygous mutations in the DUOX2 and DUOXA2 genes. The two sisters with GCH were diagnosed with CH at neonatal screening and were enrolled in this study. The DUOX2, DUOXA2, and thyroid peroxidase (TPO) genes were considered for genetic defects screening. ...[more]