| 1 | CHRNG, MPTLT1 |
| CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. | |
| Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, MacDonald F, Maher ER. | |
| J Med Genet 49(1):21-6. doi: 10.1136/jmedgenet-2011-100378. 2012 | |
| 2 | CHRNG, MPTLT1, MPTSE |
| Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. | |
| Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER. | |
| Am J Hum Genet 79(2):390-5. Epub 2006 Jun 20. 2006 | |