@article{articledfc9fcff,
title   = {A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects},
author = {Palagano, Eleonora and Gordon, Christopher T and Uva, Paolo and Strina, Dario and Dimartino, Clémantine and Villa, Anna and Amiel, Jeanne and Guion-Almeida, Maria Leine and Pittoli, Siulan Vendramini Paulovich and Nakata, Nancy Mizue Kokitsu and Zechi-Ceide, Roseli Maria and Sobacchi, Cristina},
year = {2021},
doi = {10.1016/j.bone.2021.116152},
journal   = {Bone}
}