GeneticseLifePeer-reviewed
Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion
Caroline Lekszas, Ombretta Foresti, Ishier Raote…·Thomas Haaf
This paper identifies biallelic TANGO1 mutations causing a novel syndromal collagenopathy in humans, leading to multiple systemic abnormalities.
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