@article{article, title = {{EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis}}, publisher = {{Elsevier BV}}, url = {{https://doi.org/10.1016/j.ajhg.2022.10.010 }}, year = {{2022}}, month = {{11}}, author = {{Adamo CS and Beyens A and Schiavinato A and Keene DR and Tufa SF and Mörgelin M and Brinckmann J and Sasaki T and Niehoff A and Dreiner M and Pottie L et al}}, doi = {{10.1016/j.ajhg.2022.10.010}}, volume = {{109}}, journal = {{The American Journal of Human Genetics}}, issue = {{12}}, pages = {{2230-2252}}, note = {{Accessed on 2025/11/06}}}