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...

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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

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https://etj.bioscientifica.com/view/journals/etj/11/1/ETJ-21-0072.xml

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