Ian Porter

A homozygous hypomorphic FBN1 splice region variant in domestic cats with Marfan syndrome

Marfan syndrome (MFS) is an autosomal dominant connective tissue disease caused by variants in the fibrillin 1 ( FBN1 ) gene. While common in humans, spontaneous animal models are rarely reported. We present the first phenotypic and molecular characterization of MFS in domestic c...