A sensitive mutation‐specific screening technique for <i>GNAS1</i> mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone

Abstract

Detection of GNAS1 mutations by MSRED is a valuable adjunct to the histopathological diagnosis of FD. This is the first report of a Q227L mutation in FD, although it has been previously documented in pituitary adenoma.