Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR

Abstract

#201750). FGFR2 mutations show variable clinical penetrance and patients with the same FGFR2 mutation can exhibit diverse clinical features. Therefore, FGFR2-related craniosynostosis syndromes are usually named according to the accompanying extra-cranial manifestations.