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Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.
Battini, Roberta; Bertelloni, Silvano; Astrea, Guja; Casarano, Manuela; Travaglini, Lorena; Baroncelli, Giampiero; Pasquariello, Rosa; Bertini, Enrico; Cioni, Giovanni.
Afiliación
  • Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris, Viale del Tirreno 331, 56128, , Calambrone, Pisa, Italy. r.battini@fsm.unipi.it.
  • Bertelloni S; Department of Obstetrics, Gynecology, and Pediatrics, Pediatric Division, Santa Chiara University Hospital, Pisa, Italy. s.bertelloni@med.unipi.it.
  • Astrea G; Department of Developmental Neuroscience, IRCCS Stella Maris, Viale del Tirreno 331, 56128, , Calambrone, Pisa, Italy. g.astrea@fsm.unipi.it.
  • Casarano M; Department of Developmental Neuroscience, IRCCS Stella Maris, Viale del Tirreno 331, 56128, , Calambrone, Pisa, Italy. m.casarano@fsm.unipi.it.
  • Travaglini L; Laboratory of Molecular Medicine, Ospedale Bambino Gesù Research Chidren's Hospital, Rome, Italy. lorena.travaglini@opbg.net.
  • Baroncelli G; Department of Obstetrics, Gynecology, and Pediatrics, Pediatric Division, Santa Chiara University Hospital, Pisa, Italy. g.baroncelli@med.unipi.it.
  • Pasquariello R; Department of Developmental Neuroscience, IRCCS Stella Maris, Viale del Tirreno 331, 56128, , Calambrone, Pisa, Italy. robrain76@virgilio.it.
  • Bertini E; Laboratory of Molecular Medicine, Ospedale Bambino Gesù Research Chidren's Hospital, Rome, Italy. enricosilvio.bertini@opbg.net.
  • Cioni G; Department of Developmental Neuroscience, IRCCS Stella Maris, Viale del Tirreno 331, 56128, , Calambrone, Pisa, Italy. g.cioni@fsm.unipi.it.
BMC Med Genet ; 16: 53, 2015 Jul 25.
Article en En | MEDLINE | ID: mdl-26204956
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia / Leucoencefalopatías / Hipogonadismo / Anodoncia Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia / Leucoencefalopatías / Hipogonadismo / Anodoncia Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Italia