Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R

• Savoldi, Gianfranco Laboratory of Genetic Disorders of Childhood; A. Nocivelli Institute for Molecular Medicine; Department of Pathology, Spedali Civili; Brescia; Italy
• Izzi, Claudia Prenatal Diagnosis Unit; Department of Obstetrics and Gynaecology; University of Brescia, Spedali Civili; Brescia; Italy
• Signorelli, Marino Prenatal Diagnosis Unit; Department of Obstetrics and Gynaecology; University of Brescia, Spedali Civili; Brescia; Italy
• Bondioni, Maria Pia Chair of Radiology; University of Brescia, Spedali Civili; Brescia; Italy
• Romani, Chiara “Angelo Nocivelli” Institute for Molecular Medicine; Division of Gynecologic Oncology; University of Brescia; Brescia; Italy
• Lanzi, Gaetana Laboratory of Genetic Disorders of Childhood; A. Nocivelli Institute for Molecular Medicine; Department of Pathology, Spedali Civili; Brescia; Italy
• Moratto, Daniele Laboratory of Genetic Disorders of Childhood; A. Nocivelli Institute for Molecular Medicine; Department of Pathology, Spedali Civili; Brescia; Italy
• Verdoni, Lucio Centro di Auxoendocrinologia; Department of Pediatrics; University of Brescia, Spedali Civili; Brescia; Italy
• Pinotti, Moira Centro di Auxoendocrinologia; Department of Pediatrics; University of Brescia, Spedali Civili; Brescia; Italy
• Prefumo, Federico Prenatal Diagnosis Unit; Department of Obstetrics and Gynaecology; University of Brescia, Spedali Civili; Brescia; Italy
• Superti-Furga, Andrea Departments of Genetics and Pediatrics; University of Lausanne; Centre Hospitalier Universitaire Vaudois (CHUV); Lausanne; Switzerland
• Pilotta, Alba Centro di Auxoendocrinologia; Department of Pediatrics; University of Brescia, Spedali Civili; Brescia; Italy

Genetics(clinical)

Genetics