Novel Plod1 Mutation Leads to Smooth Muscle Cell Dysfunction and Aortopathy
Year: 2020
Type: article
Abstract: Familial thoracic aortic aneurysm syndrome (FTAAS) is a heterogenous group of disorders characterized by vascular connective tissue disease (CTD) resulting in aortopathy. We describe a new mutation in PLOD1 (c.534C>A (p.Ser178Arg)), a gene known to cause non-vascular kyphoscoliotic Ehlers Danlos
Authors: Omer Cavus, Jordan Williams, Muhannad Akel, Peter Baker, Francesca Madiai, Matthew Granger, Peter Mohler, Sara Koenig, Elisa Bradley
Institution: The Ohio State University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $3,000
OpenAlex ID: W3011926282