Author
Bart J. G. Broeckx
Recent research
- BiologyOpen access
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...
- Health & Medicine
Objectives In decentralised breeding programmes, consistent health monitoring can be challenging, yet accurate phenotyping is essential for informed selection. This study evaluated whether a concise owner‐based online survey could capture clinically relevant dermatologic signs in...