@misc{misc0df222c0,
title   = {Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta]},
author = {Silveira, Karina C. and Bonadia, Luciana C. and Superti-Furga, Andrea and Bertola, Débora Romeo and Jorge, Alexander A. L. and Cavalcanti, Denise P.},
year = {2015},
doi = {10.1002/ajmg.a.36954},
journal   = {American Journal of Medical Genetics Part A}
}