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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