A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects - Palagano, Eleonora; Gordon, Christopher T; Uva, Paolo; Strina, Dario; Dimartino, Clémantine; Villa, Anna; Amiel, Jeanne; Guion-Almeida, Maria Leine; Pittoli, Siulan Vendramini Paulovich; Nakata, Nancy Mizue Kokitsu; Zechi-Ceide, Roseli Maria; Sobacchi, Cristina (Bone, 2021)