A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.
Palagano E, Gordon CT, Uva P, Strina D, Dimartino C, Villa A, Amiel J, Guion-Almeida ML, Vendramini-Pittoli S, Kokitsu-Nakata NM, et al. Bone. 2021 Dec; 153:116152. Epub 2021 Aug 14.