Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease
Abstract Background Rare diseases are pathologies that affect less than 1 in 2000 people.They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms.Rare diseases have in general a high impact on the quality of life and life expectancy of patients, which are in Touchless general children or young people.T