Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
Titel:
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
Auteur:
Pottie, Lore Adamo, Christin S. Beyens, Aude Lütke, Steffen Tapaneeyaphan, Piyanoot De Clercq, Adelbert Salmon, Phil L. De Rycke, Riet Gezdirici, Alper Gulec, Elif Yilmaz Khan, Naz Urquhart, Jill E. Newman, William G. Metcalfe, Kay Efthymiou, Stephanie Maroofian, Reza Anwar, Najwa Maqbool, Shazia Rahman, Fatima Altweijri, Ikhlass Alsaleh, Monerah Abdullah, Sawsan Mohamed Al-Owain, Mohammad Hashem, Mais Houlden, Henry Alkuraya, Fowzan S. Sips, Patrick Sengle, Gerhard Callewaert, Bert