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A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.
Pasca, Ludovica; Politano, Davide; Cavallini, Anna; Panzeri, Elena; Vigone, Maria Cristina; Baldoli, Cristina; Abbate, Marco; Kullmann, Gaia; Marelli, Susan; Pozzobon, Gabriella; Vincenzi, Gaia; Nacinovich, Renata; Bassi, Maria Teresa; Romaniello, Romina.
Afiliación
  • Pasca L; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Politano D; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Cavallini A; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Panzeri E; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Vigone MC; IRCCS Fondazione Don C. Gnocchi, Milan, Italy.
  • Baldoli C; Laboratory of Molecular Biology, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Abbate M; Pediatric Endocrinology Unit, San Raffaele Hospital, Milan, Italy.
  • Kullmann G; Neuroradiology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Marelli S; Pediatric Endocrinology Unit, San Raffaele Hospital, Milan, Italy.
  • Pozzobon G; Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
  • Vincenzi G; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Nacinovich R; Pediatric Endocrinology Unit, San Raffaele Hospital, Milan, Italy.
  • Bassi MT; Pediatric Endocrinology Unit, San Raffaele Hospital, Milan, Italy.
  • Romaniello R; Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
Neuropediatrics ; 2023 Aug 10.
Article en En | MEDLINE | ID: mdl-37343586

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Neuropediatrics Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Alemania

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Neuropediatrics Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Alemania