Marfan syndrome (MFS) is a complex connective tissue disease that is primarily
characterized by cardiovascular, ocular and skeletal systems disorders. Despite its rarity …

Background Aortic dissection (AD) is a lethal cardiac disorder and one of the most
concerning cardiovascular diseases (CVDs). Increasing evidence indicates that human …

ABSTRACT Shprintzen‐Goldberg‐syndrome (SGS) is caused by pathogenic exon 1 variants
of SKI. Symptoms include dysmorphic features, skeletal and cardiovascular comorbidities …

TGFBR2, SMAD3, TGFB2, TGFB3, and SMAD2—have been reported to cause Loeys–Dietz
syndrome. 1 However, the genetic basis for the remaining 5% to 10% of syndromic …

Shprintzen-Goldberg syndrome is a rare systemic connective tissue disorder caused by
heterozygous mutations in the Sloan-Kettering Institute (SKI) gene. The clinical presentation …

Heterozygous deleterious variants in SKI cause Shprintzen–Goldberg Syndrome, which is
mainly characterized by craniofacial features, neurodevelopmental disorder and thoracic …

Shprintzen-Goldberg craniosynostosis syndrome, characterized by craniosynostosis and
marfanoid habitus, is a very rare entity described in 75 individuals worldwide. This study …

Aortopathies or diseases of the aorta are potentially life-threatening diseases, including
thoracic and abdominal aortic aneurysm and associated dissection, accounting for 1%–2 …

MicroRNAs (miRNAs) are known as a group of short noncoding ribonucleic acids (ncRNAs).
Mainly, they can manage gene expression at the posttranscriptional level in the essential …

JLE - Annales de Biologie Clinique - Genetic of thoracic aorta aneurysm JLE Home Bookstore
Search for books Collections New books and E-books Publishers: JLE Arnette Pradel Doin …