 | Up a level |
Journal Article
Adamo, Christin S. 
ORCID: 0000-0002-8560-6153, Beyens, Aude, Schiavinato, Alvise, Keene, Douglas R., Tufa, Sara F., Morgelin, Matthias, Brinckmann, Jurgen, Sasaki, Takako, Niehoff, Anja, Dreiner, Maren, Pottie, Lore, Muino-Mosquera, Laura, Gulec, Elif Yilmaz, Gezdirici, Alper ORCID: 0000-0002-2432-9279, Braghetta, Paola, Bonaldo, Paolo, Wagener, Raimund, Paulsson, Mats, Bornaun, Helen, De Rycke, Riet, De Bruyne, Michiel, Baeke, Femke, Devine, Walter P., Gangaram, Balram, Tam, Allison ORCID: 0000-0001-6940-9240, Balasubramanian, Meena ORCID: 0000-0003-1488-3695, Ellard, Sian, Moore, Sandra, Symoens, Sofie, Shen, Joseph, Cole, Stacey, Schwarze, Ulrike, Holmes, Kathryn W., Hayflick, Susan J., Wiszniewski, Wojciech, Nampoothiri, Sheela, Davis, Elaine C., Sakai, Lynn Y., Sengle, Gerhard and Callewaert, Bert
(2022).
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Am. J. Hum. Genet., 109 (12).
S. 2230 - 2254.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
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