Partsch CJ et al. Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature. Exp Clin Endocrinol Diabetes. 2006;114(5):227 234. PMID: 16804796.
Karges B et al. Compound heterozygous and homozygous mutations of the TSHβ gene as a cause of congenital central hypothyroidism in Europe.Horm Res Paediatr. 2004;62(3):149 155. PMID: 15297803.
Nicholas AK et al. Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.Clin Endocrinol (Oxf). 2017;86(3):410 418. PMID: 27362444.
Özhan B et al. Congenital central hypothyroidism caused by a novel thyroid stimulating hormone beta subunit gene mutation in two siblings.J Clin Res Pediatr Endocrinol. 2017;9(3):278 282. PMID: 28515030.
Lauffer P et al. Mild isolated congenital central hypothyroidism due to a novel homozygous variant in TSHB: a case report.Thyroid. 2022;32(4):472 474. PMID: 35102753.
Kaplan AI et al. Novel TSHB variant (c.217A>C) causing severe central hypothyroidism and pituitary hyperplasia. Endocrinol Diabetes Metab Case Rep. 2022;2022:22 0230. PMID: 36001021.
Borges MdF et al. A recurrent mutation in TSHB gene underlying central congenital hypothyroidism undetectable in neonatal screening. Rev Paul Pediatr. 2019;37(4):00017. PMID: 31166470.
Kalveram L et al. The pathogenic TSH β subunit variant C105Vfs114X causes a modified signaling profile at TSHR. Int J Mol Sci. 2019;20(22):5564. PMID: 31703413.
Sugisawa C et al. Genetics of congenital isolated TSH deficiency: mutation screening of the known causative genes and a literature review.J Clin Endocrinol Metab. 2019;104(12):6229 6237. PMID: 31504637.
Tajima T et al. Recent advances in research on isolated congenital central hypothyroidism.Clin Pediatr Endocrinol. 2019;28(3):69 79. PMID: 31384098.
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