Litcius/Paper detail

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

Lore Pottie, Christin S. Adamo, Aude Beyens, Steffen Lütke, Piyanoot Tapaneeyaphan, Adelbert De Clercq, Phil Salmon, Riet De Rycke, Alper Gezdirici, Elif Yılmaz Güleç, Naz Khan, Jill Urquhart, William G. Newman, Kay Metcalfe, Stéphanie 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

2021The American Journal of Human Genetics33 citationsDOIOpen Access PDF

Topics & Concepts

BiologyCutis laxaGeneticsExtracellular matrixPhenotypeFibrillinJoint hypermobilityZebrafishCell biologyAnatomyGeneConnective tissue disorders researchBone and Dental Protein StudiesUbiquitin and proteasome pathways
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome | Litcius