Tania Maria Barreto Rodrigues Marlon Messias da Conceição Silva Magali Maciel Freitas Zélia Maria Costa Duarte Vitória Sousa Frutuoso Mariana Teixeira Rodrigues Ileana Gabriela Sanchez Rubio
10.3389/fendo.2021.671659
Front Endocrinol (Lausanne)
2021 Jun 18;12:671659.
congenital hypothyroidism fetal goiter growth mutations neuropsychological evaluation thyroid peroxidase
CC BY
https://pubmed.ncbi.nlm.nih.gov/34220711/
Autoantigens / genetics Congenital Hypothyroidism / diagnostic imaging Goiter / diagnostic imaging Iodide Peroxidase / genetics Iron-Binding Proteins / genetics Mutation
Autoantigens / genetics Congenital Hypothyroidism / diagnostic imaging Goiter / diagnostic imaging Iodide Peroxidase / genetics Iron-Binding Proteins / genetics Mutation Case Reports Research Support, Non-U.S. Gov't Congenital Hypothyroidism / genetics DNA Mutational Analysis Female Goiter / genetics Humans Infant, Newborn Male Pregnancy Ultrasonography, Prenatal Autoantigens Iron-Binding Proteins TPO protein, human Iodide Peroxidase
PMC8251258
34220711
Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations
2021