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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; Pilotta, Alba.
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  • Savoldi G; Laboratory of Genetic Disorders of Childhood, A. Nocivelli Institute for Molecular Medicine, Department of Pathology, Spedali Civili, Brescia, Italy.
Am J Med Genet A ; 161A(10): 2614-9, 2013 Oct.
Article in En | MEDLINE | ID: mdl-23950054
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Mutation, Missense / Receptor, Parathyroid Hormone, Type 1 Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Newborn / Pregnancy Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2013 Type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Mutation, Missense / Receptor, Parathyroid Hormone, Type 1 Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Newborn / Pregnancy Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2013 Type: Article Affiliation country: Italy