A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report
Author:
Funder
Foundation for the National Institutes of Health
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-018-0588-7.pdf
Reference30 articles.
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2. Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis. 2010;5:17.
3. Hannoush ZC, Weiss RE. Defects of thyroid hormone synthesis and action. Endocrinol Metab Clin N Am. 2017;46:375–88.
4. Di Jeso B, Arvan P. Thyroglobulin from molecular and cellular biology to clinical endocrinology. Endocr Rev. 2016;37:2–36.
5. Targovnik HM, Esperante SA, Rivolta CM. Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations. Mol Cell Endocrinol. 2010;322:44–55.
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