PubMed (OMIM) for id: 7252

Year	Number of Results
1966	2
1968	1
1969	1
1971	2
1972	1
1974	1
1975	1
1978	1
1979	1
1980	1
1982	1
1985	1
1986	3
1988	3
1989	2
1990	3
1996	1
1998	1
2001	2
2002	2
2004	1
2013	1
2014	1
2022	1
2024	0

1

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

Shaki D, Eskin-Schwartz M, Hadar N, Bosin E, Carmon L, Refetoff S, Hershkovitz E, Birk OS, Haim A. Shaki D, et al. Eur Thyroid J. 2022 Jan 7;11(1):e210072. doi: 10.1530/ETJ-21-0072. Eur Thyroid J. 2022. PMID: 34981755 Free PMC article.

2

Falsely undetectable TSH in a cohort of South Asian euthyroid patients.

Drees JC, Stone JA, Reamer CR, Arboleda VE, Huang K, Hrynkow J, Greene DN, Petrie MS, Hoke C, Lorey TS, Dlott RS. Drees JC, et al. J Clin Endocrinol Metab. 2014 Apr;99(4):1171-9. doi: 10.1210/jc.2013-2092. Epub 2013 Jan 1. J Clin Endocrinol Metab. 2014. PMID: 24423284

3

Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.

Borck G, Topaloglu AK, Korsch E, Martiné U, Wildhardt G, Onenli-Mungan N, Yuksel B, Aumann U, Koch G, Ozer G, Pfäffle R, Scherberg NH, Refetoff S, Pohlenz J. Borck G, et al. J Clin Endocrinol Metab. 2004 Aug;89(8):4136-41. doi: 10.1210/jc.2004-0494. J Clin Endocrinol Metab. 2004. PMID: 15292359

4

Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.

Brumm H, Pfeufer A, Biebermann H, Schnabel D, Deiss D, Grüters A. Brumm H, et al. J Clin Endocrinol Metab. 2002 Oct;87(10):4811-6. doi: 10.1210/jc.2002-020297. J Clin Endocrinol Metab. 2002. PMID: 12364478

5

Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.

Pohlenz J, Dumitrescu A, Aumann U, Koch G, Melchior R, Prawitt D, Refetoff S. Pohlenz J, et al. J Clin Endocrinol Metab. 2002 Jan;87(1):336-9. doi: 10.1210/jcem.87.1.8154. J Clin Endocrinol Metab. 2002. PMID: 11788671

6

New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.

Vuissoz JM, Deladoëy J, Buyukgebiz A, Cemeroglu P, Gex G, Gallati S, Mullis PE. Vuissoz JM, et al. J Clin Endocrinol Metab. 2001 Sep;86(9):4468-71. doi: 10.1210/jcem.86.9.7876. J Clin Endocrinol Metab. 2001. PMID: 11549695

7

Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene.

Bonomi M, Proverbio MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L. Bonomi M, et al. J Clin Endocrinol Metab. 2001 Apr;86(4):1600-4. doi: 10.1210/jcem.86.4.7411. J Clin Endocrinol Metab. 2001. PMID: 11297590

8

Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.

Doeker BM, Pfäffle RW, Pohlenz J, Andler W. Doeker BM, et al. J Clin Endocrinol Metab. 1998 May;83(5):1762-5. doi: 10.1210/jcem.83.5.4780. J Clin Endocrinol Metab. 1998. PMID: 9589689

9

A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.

Medeiros-Neto G, Herodotou DT, Rajan S, Kommareddi S, de Lacerda L, Sandrini R, Boguszewski MC, Hollenberg AN, Radovick S, Wondisford FE. Medeiros-Neto G, et al. J Clin Invest. 1996 Mar 1;97(5):1250-6. doi: 10.1172/JCI118540. J Clin Invest. 1996. PMID: 8636437 Free PMC article.

10

Pituitary cretinism in two sisters.

Kohno H, Watanabe N, Ootsuka M, Kajiwara M, Gohya N. Kohno H, et al. Arch Dis Child. 1980 Sep;55(9):725-7. doi: 10.1136/adc.55.9.725. Arch Dis Child. 1980. PMID: 7436542 Free PMC article.

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