Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore Pottie(Ghent University Hospital), Bert Callewaert(University College Ghent), Gerhard Sengle(University of Cologne), Fatima Rahman, Stéphanie Efthymiou(Queen Mary University of London), Naz Khan(University of Manchester), Steffen Lütke(University of Cologne), Piyanoot Tapaneeyaphan(Ghent University Hospital), Monerah Alsaleh(King Faisal Specialist Hospital & Research Centre), Elif Yılmaz Güleç(İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi), Riet De Rycke(Vlaams Instituut voor Biotechnologie), Christin S. Adamo(University of Cologne), Phil Salmon, Adelbert De Clercq(Ghent University Hospital), Ikhlass Altweijri(King Khalid University Hospital), Aude Beyens(Ghent University Hospital), William G. Newman(Manchester Metropolitan University), Patrick Sips(Ghent University Hospital), Henry Houlden(University College London), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Fowzan S. Alkuraya(Alfaisal University), Mohammad Al-Owain(Alfaisal University), Alper Gezdirici, Najwa Anwar, Sawsan Mohamed Abdullah(King Faisal Specialist Hospital & Research Centre), Shazia Maqbool, Kay Metcalfe(Manchester Academic Health Science Centre), Jill Urquhart(University of Manchester)
The American Journal of Human Genetics
December 1, 2021
Cited by 6


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