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Review
. 2016 Jun;45(2):243-54.
doi: 10.1016/j.ecl.2016.01.007. Epub 2016 Apr 13.

Update of Thyroid Developmental Genes

Athanasia Stoupa  1 , Dulanjalee Kariyawasam  2 , Aurore Carré  3 , Michel Polak  4
Affiliations
Review

Update of Thyroid Developmental Genes

Athanasia Stoupa et al. Endocrinol Metab Clin North Am. 2016 Jun.

Abstract

Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism in iodine-sufficient regions and includes a spectrum of developmental anomalies. The genetic components of TD are complex. Although a sporadic disease, advances in developmental biology have revealed monogenetic forms of TD. Inheritance is not based on a simple Mendelian pattern and additional genetic elements might contribute to the phenotypic spectrum. This article summarizes the key steps of normal thyroid development and provides an update on responsible genes and underlying mechanisms of TD. Up-to-date technologies in genetics and biology will allow us to advance in our knowledge of TD.

Keywords: Congenital hypothyroidism; Epigenetics; Genetics; Mendelian inheritance; Thyroid development; Thyroid dysgenesis; Thyroid gland; Transcription factors.

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