Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and escobar variants of multiple pterygium syndrome

Neil V. Morgan, Louise A. Brueton, Phillip Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans Van Bokhoven, Tamas Marton, Lihadh Al-Gazali, Jenny E.V. Morton, Christine Oley, Colin A. Johnson, Richard C. Trembath, Han G. Brunner, Eamonn R. Maher

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126 Citations (Scopus)

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Medicine & Life Sciences