Lethal White Foal Syndrome

Gene involved
EDNRB

Mutation tested
c.353_354delinsAG

Transmission mode : Autosomal recessive

Publication : Santschi et al. (1998). Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses.
Metallinos et al. (1998). A missense mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome - an equine version of Hirschsprung-disease.