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From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
Gatti, Marta; Magri, Stefania; Nanetti, Lorenzo; Sarto, Elisa; Di Bella, Daniela; Salsano, Ettore; Pantaleoni, Chiara; Mariotti, Caterina; Taroni, Franco.
Affiliation
  • Gatti M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Nanetti L; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Sarto E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Di Bella D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Salsano E; Unit of Neurodegenerative and Neurometabolic Rare Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Pantaleoni C; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Mariotti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Am J Med Genet A ; 179(11): 2277-2283, 2019 11.
Article in En | MEDLINE | ID: mdl-31436889
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Cerebellar Ataxia / Phosphotransferases (Alcohol Group Acceptor) / DNA Repair Enzymes / Microcephaly / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Infant / Male / Middle aged Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Cerebellar Ataxia / Phosphotransferases (Alcohol Group Acceptor) / DNA Repair Enzymes / Microcephaly / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Infant / Male / Middle aged Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Italy