FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.

Published in: Connective tissue research (2024)

This study enriched the pathogenic spectrum of CCA and identified a hotspot region in FBN2 gene associated with severe cardiovascular manifestations. We recommend that patients carrying pathogenic variants in exons 31 to 35 of FBN2 pay more attention to cardiac evaluation.

Keyphrases

copy number
end stage renal disease
ejection fraction
newly diagnosed
early onset
chronic kidney disease
prognostic factors
gene expression