12 different mutations have been identified

As of today, 12 different mutations have been identified leading to Cutis Laxa. That is why Cutis Laxa classification will soon be reviewed. Elastine (ELN) (2 mutations) – ADCL Fibuline5 (FBLN5) – ARCL1A Fibuline4 (FBLN4) – ARCL1B LTBP4 – ARCL1C ATP6V0A2 – ARCL2A PYCR1 – ARCL2B ATP6V1E1 / ATP6V1A – ARCL2C ALDH18A1 – ARCL3 (De […]