Autoimmune-poly-endocrinopathy-candidiasis–ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene. Criteria for the d
NA: DNA was not available.aThis case was classified as ‘de novo’ due to pathogenicity of the nonsense mutation, note that parental DNA could not be analyzed.bOnly sequence around c.707A>T available, p
The need for a detailed catalogue of local variability for the study of rare diseases within the context of the Medical Genome Project motivated the whole exome sequencing of 267 unrelated individuals
