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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-26204956

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Leucoencefalopatias / Hipogonadismo / Anodontia Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Humans / Male Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Leucoencefalopatias / Hipogonadismo / Anodontia Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Humans / Male Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália