Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion
Caroline Lekszas, Ombretta Foresti, Ishier Raote, Daniel Liedtke, Eva‐Maria König, Indrajit Nanda, Barbara Vona, Peter De Coster, Rita G. E. C. Cauwels, Vivek Malhotra, Thomas Haaf
This paper identifies biallelic TANGO1 mutations causing a novel syndromal collagenopathy in humans, leading to multiple systemic abnormalities.
eLife · Feb 26, 2020Peer-reviewedGenetics