Universität zu Köln

Journal Article

Beyens, A., Adamo, C., Gulec, E. Yilmaz, Gezdirici, A., Bonaldo, P., Bornaun, H., Brauchle, E., Brinckmann, J., Devine, W. P., Gangaram, B., Sasaki, T., Schenke-Layland, K., Symoens, S., Tam, A., Sengle, G. and Callewaert, B. (2020). Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 132 - 134. LONDON: SPRINGERNATURE. ISSN 1476-5438