Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
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Colin A. Johnson | J. Tolmie | H. Brunner | R. Trembath | H. van Bokhoven | J. Morton | L. Al-Gazali | L. Brueton | E. Maher | I. Aligianis | N. Morgan | T. Marton | C. Oley | M. Greally | P. Cox | S. Pasha