Reham S Ebrhim Ryan J Bruellman Yui Watanabe Matthew K Creech Mohamed A Abdullah Alexandra M Dumitrescu Samuel Refetoff Roy E Weiss
10.1159/000504981
Horm Res Paediatr
2019;92(6):390-394.
central congenital hypothyroidism secondary hypothyroidism tsh receptor
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/31914441/
Congenital Hypothyroidism / genetics Mutation, Missense Protein Multimerization Thyrotropin, beta Subunit / genetics
Congenital Hypothyroidism / genetics Mutation, Missense Protein Multimerization Thyrotropin, beta Subunit / genetics Case Reports Amino Acid Substitution Congenital Hypothyroidism / blood Humans Infant Male Protein Domains Thyrotropin, beta Subunit / blood Thyrotropin, beta Subunit
PMC7308213
31914441
Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ
2019