Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome by Morgan Neil V, Brueton Louise A, Cox Phillip, Greally Marie T, Tolmie John, Pasha Shanaz, Aligianis Irene A, van Bokhoven Hans, Marton Tamas, Al-Gazali Lihadh, Morton Jenny E V, Oley Christine, Johnson Colin A, Trembath Richard C, Brunner Han G, Maher Eamonn R in American journal of human genetics (2006).

[PMID: 16826531] PubMed


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