GENETIC VARIANTS ASSOCIATED WITH INFANTILE HYPERTROPHIC PYLORIC STENOSIS

摘要

The present invention relates to an in vitro method for diagnosing a genetic predisposition or susceptibility for Infantile Hypertrophic Pyloric Stenosis (IHPS), a severe condition characterized by hypertrophy of the pyloric sphincter muscle. The present invention also relates to diagnostic and research kits for use in diagnosing IHPS and to the use of cholesterol in the treatment of IHPS.