Associated Papers
Novel TSHB variant (c.217A>C) causing severe central hypothyroidism and pituitary hyperplasia.
Kaplan AI et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2022
The Pathogenic TSH β-subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR.
Kalveram L et al.
International Journal of Molecular Sciences, 2019
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING.
Borges MF et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 2019
Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.
Nicholas AK et al.
Clinical Endocrinology, 2017
Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.
Baquedano MS et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
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