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 cats. A pair of random-bred littermates e...
Shawna R. Cook, Jessica J. Hayward, Soon Hon Cheong et al.
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