Investigating TSHR gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism

Investigating TSHR gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism

BackgroundA defective thyroid-stimulating hormone receptor (TSHR) gene is one of the main known genetic factors leading to congenital hypothyroidism (CH). However, the relationship between TSHR genotypes and phenotype and the underlying reason for the broad spectrum of phenotypes in the patients car...

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Main Authors: Zakiye Nadeali, Zohreh Mohammadi-Zaniani, Sajjad Biglari, Newsha Molavi, Khashayar Zardoui, Sam Mirfendereski, Mahin Hashemipour, Mohammad Amin Tabatabaiefar, Constantin Polychronakos
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Endocrinology
Subjects:
congenital hypothyroidism
thyroid-stimulating hormone receptor
exome sequencing
consanguineous
familial
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1559281/full
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https://www.frontiersin.org/articles/10.3389/fendo.2025.1559281/full

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