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.
Pottie L, et al. Among authors: sips p.
Am J Hum Genet. 2021 Dec 2;108(12):2386-2388. doi: 10.1016/j.ajhg.2021.11.009.
Am J Hum Genet. 2021.
PMID: 34861177
Free PMC article.
No abstract available.