Bi-allelic Emilin 1 LOF causes #Aortopathy

EMILIN1 deficiency👤🐭->
⏬Fibulin 4
⏬LOX
⏫#TGFβ signals
⏬#Elastogenesis
⏬#CollagenFibrillogenesis

Pediatric #AscendingAorticAneurysm

Dr. Gerhard Sengle & Bert Callewaert labs Am J Hum Genet 2022
https://www.cell.com/ajhg/fulltext/S0002-9297(22)00458-X