Federica Isidori

Compound Heterozygous Variants in the PAICS Gene Integrate the Previously Described Divergent Phenotypes

ABSTRACT Biallelic variants in PAICS , one of the 10 genes involved in the de novo purine synthesis (DNPS), were originally associated with an extremely rare phenotype characterized by multiple and severe congenital abnormalities, such as polyhydramnios due to esophageal atresia,...