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Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.
Minniti, Maria Letizia; Kalantari, Silvia; Pasca, Ludovica; Bruno, Samantha; Arceri, Sebastiano; Novello, Elisa; Giorgio, Elisa; Rizzo, Vittoria; Borgatti, Renato; Valente, Enza Maria; Pisani, Antonio; Orcesi, Simona; Sirchia, Fabio.
Affiliation
  • Minniti ML; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Kalantari S; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.
  • Pasca L; Department of Medical Sciences, University of Turin, Turin, Italy.
  • Bruno S; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Arceri S; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.
  • Novello E; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Giorgio E; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.
  • Rizzo V; IRCCS, Mondino Foundation, Pavia, Italy.
  • Borgatti R; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Pisani A; IRCCS Mondino Foundation, Neurogenetics Research Center, Pavia, Italy.
  • Orcesi S; Department of Molecular Medicine, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Sirchia F; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Am J Med Genet A ; 194(1): 82-87, 2024 Jan.
Article in En | MEDLINE | ID: mdl-37750385
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intellectual Disability Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2024 Document type: Article Affiliation country: Italy Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intellectual Disability Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2024 Document type: Article Affiliation country: Italy Country of publication: United States