TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews

TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews

Objective: Bi-allelic loss-of-function mutations in TSHB, encoding the beta subunit of thyroid-stimulating hormone (TSH), cause congenital hypothyroidism. Homozygosity for the TSHB p.R75G variant, previously described in South Asian individuals, does not alter TSH function but abrogates its detectio...

Full description

Bibliographic Details
Main Authors: David Shaki, Marina Eskin-Schwartz, Noam Hadar, Emily Bosin, Lior Carmon, Samuel Refetoff, Eli Hershkovitz, Ohad S Birk, Alon Haim
Format: Article
Language:English
Published: Bioscientifica 2023-01-01
Series:European Thyroid Journal
Subjects:
undetectable tsh
indian jews
bene israel
tshb r75g
Online Access:https://etj.bioscientifica.com/view/journals/etj/11/1/ETJ-21-0072.xml

Similar Items

Similar Items