Panudda Srichomkwun Osnat Admoni Samuel Refetoff Liat de Vries
10.1159/000445891
Horm Res Paediatr
2016;86(2):137-142.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/27207603/
Congenital Hyperinsulinism / genetics Family Mutation, Missense PAX8 Transcription Factor / genetics
Congenital Hyperinsulinism / genetics Family Mutation, Missense PAX8 Transcription Factor / genetics Case Reports Adolescent Adult Aged Amino Acid Substitution Child Child, Preschool Congenital Hyperinsulinism / blood Female Humans Hungary Jews Male Middle Aged Thyrotropin / blood PAX8 Transcription Factor PAX8 protein, human Thyrotropin
PMC5061635
27207603
A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals
2016