“Novel Likely Pathogenic EFEMP2 Gene Variant in Iranian Family with Dominant Nonsyndromic Thoracic Aortic Anaurysm”

https://pubmed.ncbi.nlm.nih.gov/38113391

A novel likely pathogenic EFEMP2 gene variant has been identified in an Iranian family with dominant nonsyndromic thoracic aortic aneurysm, highlighting the importance of genetic evaluations in at-risk families.