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Familial cleidocranial dysplasia misdiagnosed as rickets over three generations.
Franceschi, Roberto; Maines, Evelina; Fedrizzi, Michela; Piemontese, Maria Rosaria; De Bonis, Patrizia; Agarwal, Nivedita; Bellizzi, Maria; Di Palma, Annunziata.
Affiliation
  • Franceschi R; Pediatrics Unit, S. Chiara General Hospital, Trento, Italy.
  • Maines E; Pediatrics Unit, S. Chiara General Hospital, Trento, Italy.
  • Fedrizzi M; Pediatrics Unit, S. Chiara General Hospital, Trento, Italy.
  • Piemontese MR; Department of Evolutive Age, Medical Genetics Unit, IRCCS-Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • De Bonis P; Department of Evolutive Age, Medical Genetics Unit, IRCCS-Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Agarwal N; Radiology Unit, S. Maria del Carmine, Rovereto, Italy.
  • Bellizzi M; Pediatrics Unit, S. Chiara General Hospital, Trento, Italy.
  • Di Palma A; Pediatrics Unit, S. Chiara General Hospital, Trento, Italy.
Pediatr Int ; 57(5): 1003-6, 2015 Oct.
Article in En | MEDLINE | ID: mdl-26286462
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Full text: 1 Database: MEDLINE Main subject: Rickets / Cleidocranial Dysplasia / Genetic Predisposition to Disease / Mutation, Missense / Diagnostic Errors / Core Binding Factor Alpha 1 Subunit Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Aged80 / Child, preschool / Female / Humans / Male Language: En Year: 2015 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Rickets / Cleidocranial Dysplasia / Genetic Predisposition to Disease / Mutation, Missense / Diagnostic Errors / Core Binding Factor Alpha 1 Subunit Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Aged80 / Child, preschool / Female / Humans / Male Language: En Year: 2015 Type: Article