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Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R
Savoldi, Gianfranco, Izzi, Claudia, Signorelli, Marino, Bondioni, Maria Pia, Romani, Chiara, Lanzi, Gaetana, Moratto, Daniele, Verdoni, Lucio, Pinotti, Moira, Prefumo, Federico, Superti-Furga, Andrea,Langue:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.36115
Date:
August, 2013
Fichier:
PDF, 310 KB
english, 2013