A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital Hypothyroidism
Author:
Affiliation:
1. Department of Molecular Pediatric Endocrinology, Johannes Gutenberg University of Mainz, Children's Hospital, Mainz, Germany.
Publisher
Mary Ann Liebert Inc
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://www.liebertpub.com/doi/pdf/10.1089/thy.2020.0293
Reference5 articles.
1. DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
2. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
3. Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7
4. Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism
5. Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis
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