| 1 | ADCL1, ELN |
| A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review. | |
| Duz MB, Kirat E, Coucke PJ, Koparir E, Gezdirici A, Paepe A, Callewaert B, Seven M. | |
| Clin Dysmorphol 26(3):142-147. doi: 10.1097/MCD.0000000000000179. 2017 | |
| 2 | ADCL1, ELN |
| Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. | |
| Sugitani H, Hirano E, Knutsen RH, Shifren A, Wagenseil JE, Ciliberto C, Kozel BA, Urban Z, Davis EC, Broekelmann TJ, Mecham RP. | |
| J Biol Chem 287(26):22055-67. doi: 10.1074/jbc.M111.327940. Epub 2012 May 9. 2012 | |