Clinical and functional characterization of <i>COL2A1</i> p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype.

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

Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype.

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.

Afiliação

Marchionni E; Medical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.
D'Apice MR; Medical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.
Lupo V; Medical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.
Lattanzi G; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Mattioli E; CNR Institute of Molecular Genetics "Luigi Luca Cavalli-Sforza" Unit of Bologna, Bologna, Italy.
Lisignoli G; Istituto Ortopedico Rizzoli, Bologna, Italy.
Gabusi E; CNR Institute of Molecular Genetics "Luigi Luca Cavalli-Sforza" Unit of Bologna, Bologna, Italy.
Pepe G; Istituto Ortopedico Rizzoli, Bologna, Italy.
Helmer Citterich M; IRCCS Istituto Ortopedico Rizzoli, Laboratorio di Immunoreumatologia e Rigenerazione Tissutale Bologna, Italy.
Campione E; IRCCS Istituto Ortopedico Rizzoli, Laboratorio di Immunoreumatologia e Rigenerazione Tissutale Bologna, Italy.
Nardone AM; Department of Biology, University of Rome Tor Vergata, Rome, Italy.
Spitalieri P; Department of Biology, University of Rome Tor Vergata, Rome, Italy.
Pucci N; Dermatologic Unit, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Cocciadiferro D; Medical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.
Picchi E; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Garaci F; Diagnostic Imaging Unit, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Novelli G; Diagnostic Imaging Unit, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.