Associated Papers
In silico prioritisation of EDN1 missense variants identifies mature endothelin-1 substitutions with predicted receptor-binding effects.
Sivakumar R et al.
Bmc Genomics, 2026
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N et al.
Human Mutation, 2022
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Gordon CT et al.
American Journal of Human Genetics, 2013
Select a paper to view details