Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype
Titel:
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype
Auteur:
Marchionni, Enrica D'Apice, Maria Rosaria Lupo, Viviana Lattanzi, Giovanna Mattioli, Elisabetta Lisignoli, Gina Gabusi, Elena Pepe, Gerardo Helmer Citterich, Manuela Campione, Elena Nardone, Anna Maria Spitalieri, Paola Pucci, Noemi Cocciadiferro, Dario Picchi, Eliseo Garaci, Francesco Novelli, Antonio Novelli, Giuseppe