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Journal Article

Pottie, Lore ORCID: 0000-0001-5102-975X, Adamo, Christin S. ORCID: 0000-0002-8560-6153, Beyens, Aude, Luetke, Steffen, Tapaneeyaphan, Piyanoot, De Clercq, Adelbert ORCID: 0000-0003-2670-1684, Salmon, Phil L., De Rycke, Riet, Gezdirici, Alper ORCID: 0000-0002-2432-9279, Gulec, Elif Yilmaz, Khan, Naz, Urquhart, Jill E., Newman, William G., Metcalfe, Kay, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, 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 ORCID: 0000-0001-9241-5980, Sengle, Gerhard and Callewaert, Bert ORCID: 0000-0002-9743-4205 (2021). Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. Am. J. Hum. Genet., 108 (6). S. 1095 - 1115. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Pottie, Lore ORCID: 0000-0001-5102-975X, Van Gool, Wouter, Vanhooydonck, Michiel ORCID: 0000-0001-7350-9009, Hanisch, Franz-Georg, Goeminne, Geert, Rajkovic, Andreja ORCID: 0000-0003-1062-0564, Coucke, Paul, Sips, Patrick ORCID: 0000-0001-9241-5980 and Callewaert, Bert ORCID: 0000-0002-9743-4205 (2021). Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures. PLoS Genet., 17 (6). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

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