| 1 | CLCDSF, LTBP1 |
| Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome | |
| Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B. | |
| Am J Hum Genet. Jun 3;108(6):1095-1114. doi: 10.1016/j.ajhg.2021.04.016. Epub 2021 May 14. 2021 | |