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


The American Journal of Human Genetics




August 2006

Copyright © 2006, Elsevier

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