Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.
Francesca AndreoniClaudia SgattoniDaniela BencardinoOriana SimonettiAntonino ForaboscoMauro MagnaniPublished in: Molecular genetics & genomic medicine (2020)
Our findings provide evidence of variable expression of HED in heterozygous females, which should be considered for genetic counseling, and different modes of inheritance related to tooth development.