| 1 | CHNG4, TSHB
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| Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.
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| Baquedano MS, Ciaccio M, Dujovne N, Herzovich V, Longueira Y, Warman DM, Rivarola MA, Belgorosky A.
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| J Clin Endocrinol Metab 95(9):E98-103. doi: 10.1210/jc.2010-0223. Epub 2010 Jun 9. 2010
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| 2 | CHNG4, TRHR, TRHRD
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| Genetic aspects of central hypothyroidism.
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| Collu R.
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| J Endocrinol Invest 23(2):125-34. Review. 2000
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| 3 | CHNG4, TSHB
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| Rapid detection of a point mutation in thyroid-stimulating hormone beta-subunit gene causing congenital isolated thyroid-stimulating hormone deficiency.
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| Mori R, Sawai T, Kinoshita E, Baba T, Matsumoto T, Yoshimoto M, Tsuji Y, Satake Y, Sawada K.
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| Jpn J Hum Genet 36(4):313-6. 1991
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| 4 | CHNG4, TSHB
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| Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.
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| Dacou-Voutetakis C, et al.
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| Am J Hum Genet 46 : 988-993. 1990
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