| 1 | NR2F2, SRXX5 |
| The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene | |
| Carvalheira G, Malinverni AM, Moysés-Oliveira M, Ueta R, Cardili L, Monteagudo P, Mathez ALG, Verreschi IT, Maluf MA, Shida MEF, Leite MTC, Mazzotti D, Melaragno MI, Dias-da-Silva MR. | |
| J Endocr Soc. Aug 28;3(11):2107-2113. doi: 10.1210/js.2019-00241. Erratum in: J Endocr Soc. 2020 Mar 10;4(3):bvaa022. 2020 | |
| 2 | NR2F2, SRXX5 |
| Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. | |
| Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Sólyom J, Halász Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K. | |
| Am J Hum Genet 102(3):487-493. doi: 10.1016/j.ajhg.2018.01.021. Epub 2018 Feb 22. 2018 | |