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