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Results 1 - 1 of 1 for Lethal multiple pterygium syndrome
  1. ... production of any γ subunit will result in lethal multiple pterygium syndrome, which is fatal before birth, while mutations that ... embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet. 2006 Aug;79(2): ...