Ontology highlight
ABSTRACT:
SUBMITTER: Lichti-Kaiser K
PROVIDER: S-EPMC4131692 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Lichti-Kaiser Kristin K ZeRuth Gary G Jetten Anton M AM
Journal of endocrinology, diabetes & obesity 20140401 2
Congenital hypothyroidism (CH) is the most frequent endocrine disorder in neonates. While several genetic mutations have been identified that result in developmental defects of the thyroid gland or thyroid hormone synthesis, genetic factors have yet to be identified in many CH patients along with the mechanisms underlying their pathophysiology. Mutations in the gene encoding the Krüppel-like transcription factor, GLI-similar 3 (GLIS3) have been associated with the development of a syndrome chara ...[more]