Ontology highlight
ABSTRACT:
SUBMITTER: Zou H
PROVIDER: S-EPMC4637687 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Zou Hui H Chai Jian J Liu Shiguo S Zang Hongwei H Yu Xiaoxia X Tian Liping L Li Huichao H Han Bingjuan B
International journal of clinical and experimental pathology 20150901 9
<h4>Background</h4>Thyroid dysgenesis (TD) is the most frequent cause of congenital hypothyroidism (CH), but its pathogenesis remains unclear. As a thyroid transcription factor, paired box transcription factor 8 (PAX8) is essential for thyroid organogenesis and development.<h4>Aim</h4>To screen PAX8 mutations and characterize the features of these mutations in Chinese TD patients.<h4>Materials and methods</h4>Blood samples were collected from 63 TD patients in Shandong Province, China, and genom ...[more]