Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants

por Grippaudo, Cristina, D’Apolito, Isabella, Cafiero, Concetta, Re, Agnese, Chiurazzi, Pietro, Frazier-Bowers, Sylvia A.
Publicado 2021

A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report

por Grippaudo, Cristina, Cafiero, Concetta, D’Apolito, Isabella, Re, Agnese, Genuardi, Maurizio, Chiurazzi, Pietro, Frazier-Bowers, Sylvia A.
Publicado 2019