Low TSH Congenital Hypothyroidism: Identification of a Novel Mutation of the TSH ß-Subunit Gene in One Sporadic Case (C85R) and of Mutation Q49stop in Two Siblings with Congenital Hypothyroidism
- 1 December 2002
- journal article
- case report
- Published by Springer Science and Business Media LLC in Pediatric Research
- Vol. 52 (6), 935-940
- https://doi.org/10.1203/00006450-200212000-00020
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- New Autosomal Recessive Mutation of the TSH- Subunit Gene Causing Central Isolated HypothyroidismJournal of Clinical Endocrinology & Metabolism, 2001
- Hyperplastic Pituitary Gland, High Serum Glycoprotein Hormone -Subunit, and Variable Circulating Thyrotropin (TSH) Levels as Hallmark of Central Hypothyroidism due to Mutations of the TSH GeneJournal of Clinical Endocrinology & Metabolism, 2001
- Congenital Central Isolated Hypothyroidism Caused by a Homozygous Mutation in the TSH-β Subunit GeneThyroid®, 2000
- Severe Congenital Hypothyroidism Due to a Homozygous Mutation of the βTSH GenePediatric Research, 1999
- Congenital Central Hypothyroidism due to a Homozygous Mutation in the Thyrotropin -Subunit Gene Follows an Autosomal Recessive InheritanceJournal of Clinical Endocrinology & Metabolism, 1998
- The disulphide bond structure of thyroid-stimulating hormone β-subunitBiochemical Journal, 1996
- A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.JCI Insight, 1996
- Deoxyribonucleic Acid Analyses of Five Families with Familial Inherited Thyroid Stimulating Hormone Deficiency*Journal of Clinical Endocrinology & Metabolism, 1990
- Molecular cloning of the human thyrotropin-β subunit geneFEBS Letters, 1985
- Familial Isolated Thyrotropin Deficiency with CretinismThe New England Journal of Medicine, 1971