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Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.

Abstract：

:Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism (CH), a relatively frequent endocrine disease in newborns (1 in 3000-4000 live births). TD is a defect in the organogenesis of the gland resulting in hypoplastic, ectopic or absent-thyroid gland. TD is usually sporadic but mutations in transcription factors (PAX8, TTF1, FOXE1 and NKX2-5) involved in thyroid development have been shown to cause a minority of cases transmitted as Mendelian diseases. This review focuses on the genetics and phenomics of hypothyroidism and TD due to PAX8 and TTF1 mutations.

journal_name

Mol Cell Endocrinol

journal_title

Molecular and cellular endocrinology

authors

Montanelli L,Tonacchera M

doi

10.1016/j.mce.2010.03.009

subject

Has Abstract

pub_date

2010-06-30 00:00:00

pages

64-71

issue

1-2

eissn

0303-7207

issn

1872-8057

pii

S0303-7207(10)00156-5

journal_volume

322

pub_type

杂志文章,评审

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