Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism
Author:
Affiliation:
1. Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, People’s Republic of China
2. Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, People’s Republic of China; Harvard Medical School, United States
Publisher
Archives of Endocrinology and Metabolism
Subject
Endocrinology, Diabetes and Metabolism
Link
http://www.scielo.br/pdf/aem/v60n4/2359-3997-aem-2359-3997000000108.pdf
Cited by 12 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Congenital hypothyroidism as the initial presentation of pendred syndrome associated with mutated IVS7-2A>G in SLC26A4 gene in a Taiwanese neonate;Pediatrics & Neonatology;2023-01
2. Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies;International Journal of Molecular Sciences;2022-12-06
3. Genetic analysis of iodide transporter and recycling (NIS, PDS, SLC26A7, IYD) in patients with congenital hypothyroidism;Gene;2022-05
4. Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism;Journal of Clinical Research in Pediatric Endocrinology;2021-09-21
5. Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations;International Journal of Pediatric Otorhinolaryngology;2021-01
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