| 1 | CHNG8, TBL1X |
| Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X | |
| García M, Barreda-Bonis AC, Jiménez P, Rabanal I, Ortiz A, Vallespín E, Del Pozo Á, Martínez-San Millán J, González-Casado I, Moreno JC | |
| J Endocr Soc. Nov 23;3(1):119-128. doi: 10.1210/js.2018-00144. 2018 | |
| 2 | CHNG8, TBL1X |
| Mutations in TBL1X Are Associated With Central Hypothyroidism. | |
| Heinen CA, Losekoot M, Sun Y, Watson PJ, Fairall L, Joustra SD, Zwaveling-Soonawala N, Oostdijk W, van den Akker EL, Alders M, Santen GW, van Rijn RR, Dreschler WA, Surovtseva OV, Biermasz NR, Hennekam RC, Wit JM, Schwabe JW, Boelen A, Fliers E, van Trotsenburg AS | |
| J Clin Endocrinol Metab. Dec;101(12):4564-4573. doi: 10.1210/jc.2016-2531. Epub 2016 Sep 7 2016 | |