Adamo et al. describe a cutis laxa syndrome caused by bi-allelic loss of-function variants in EMILIN1 characterized by arterial tortuosity, aneurysm formation, and osteopenia. They provide a model in which EMILIN1 connects elastic fiber network with collagen fibril formation, relevant for both bone and vascular tissue homeostasis. Read the publication
Cutis Laxa disorders usually present cardiovascular issues that need a specific follow up. Various devices can be used such as echocardiography, CT-Scan and MRI. Each one of those devices has its pros and cons and must be chosen according to what is examined.
A NEW MUTATION : EMILIN1
/in Mutations, News, Research, Research - Medicine - Genetics /by Marie-ClaudeAdamo et al. describe a cutis laxa syndrome caused by bi-allelic loss of-function variants in EMILIN1 characterized by arterial tortuosity, aneurysm formation, and osteopenia. They provide a model in which EMILIN1 connects elastic fiber network with collagen fibril formation, relevant for both bone and vascular tissue homeostasis. Read the publication
Dr. Laura Muiño Mosquera, MD (Ghent, Belgium) : Cardiovascular Follow-up in CL
/in Mutations, News, Photos, Research, Research - Medicine - Genetics /by Marie-ClaudeCutis Laxa disorders usually present cardiovascular issues that need a specific follow up. Various devices can be used such as echocardiography, CT-Scan and MRI. Each one of those devices has its pros and cons and must be chosen according to what is examined.