FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations

CONCLUSIONS: 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.PMID:38602424 | DOI:10.1080/03008207.2024.2340004
Source: Connective Tissue Research - Category: Research Authors: Source Type: research