| 1 | CHNG2, LHX1, MDFH, MRKH, PAX8, WNT4 |
| Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome | |
| Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z. Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group, Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L. | |
| Am J Hum Genet. Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. 2021 | |
| 2 | CHNG2, PAX8 |
| Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism. | |
| Narumi S, Araki S, Hori N, Muroya K, Yamamoto Y, Asakura Y, Adachi M, Hasegawa T. | |
| Eur J Endocrinol 167(5):625-32. doi: 10.1530/EJE-12-0410. Epub 2012 Aug 16. 2012 | |
| 3 | CHNG2, PAX8 |
| Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis. | |
| Mahjoubi F, Mohammadi MM, Montazeri M, Aminii M, Hashemipour M. | |
| Arq Bras Endocrinol Metabol 54(6):555-9. 2010 | |
| 4 | CHNG2, PAX8 |
| Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism. | |
| Di Palma T, Zampella E, Filippone MG, Macchia PE, Ris-Stalpers C, de Vroede M, Zannini M. | |
| Clin Endocrinol (Oxf) 73(6):808-14. doi: 10.1111/j.1365-2265.2010.03851.x. 2010 | |
| 5 | CHNG2, PAX8 |
| Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. | |
| Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G. | |
| J Clin Endocrinol Metab 86(1):234-8. 2001 | |
| 6 | CHNG2, PAX8 |
| PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. | |
| Macchia PE, et al. | |
| Nat Genet 19 : 83-86. 1998 | |