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

Neil Morgan, Louise Brueton, P Cox, MT Greally, J Tolmie, Shanaz Pasha, Irene Aligianis, H Van Bokhoven, T Marton, L Al-Gazali, Jane Morton, Christine Oley, Colin Johnson, RC Trembath, HG Brunner, Eamonn Maher

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106 Citations (Scopus)

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Medicine & Life Sciences