Citations for
1CHRNG, 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
2CHRNG, 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