https://www.cutislaxa.org/wp-content/uploads/2023/01/Emilin1.jpg 485 485 Marie-Claude http://www.cutislaxa.org/wp-content/uploads/2017/12/NEW-LOGO-CLI-4.png Marie-Claude2023-01-12 16:39:162023-01-12 16:39:16A NEW MUTATION : EMILIN1
A NEW MUTATION : EMILIN1
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.