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New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
Pichiecchio, Anna; Vitale, Giovanni; Caporali, Camilla; Parazzini, Cecilia; Milani, Donatella; Recalcati, Maria Paola; D'Amico, Laura; Signorini, Sabrina; Balottin, Umberto; Bastianello, Stefano.
Afiliação
  • Pichiecchio A; Department of Neuroradiology, IRCCS Mondino Foundation, via Mondino 2, 27100, Pavia, Italy.
  • Vitale G; University of Pavia, Corso Strada Nuova 65, 27100, Pavia, Italy.
  • Caporali C; University of Pavia, Corso Strada Nuova 65, 27100, Pavia, Italy. giovitale01@gmail.com.
  • Parazzini C; University of Pavia, Corso Strada Nuova 65, 27100, Pavia, Italy.
  • Milani D; Department of Pediatric Radiology and Neuroradiology, Children's Hospital "V. Buzzi", via Lodovico Castelvetro 32, 20154, Milan, Italy.
  • Recalcati MP; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, via Francesco Sforza 35, 20122, Milan, Italy.
  • D'Amico L; Medical Cytogenetics Laboratory, IRCCS Istituto Auxologico Italiano, Milan, Italy.
  • Signorini S; University of Pavia, Corso Strada Nuova 65, 27100, Pavia, Italy.
  • Balottin U; Child Neuropsychiatry Unit, IRCCS Mondino Foundation, via Mondino 2, 27100, Pavia, Italy.
  • Bastianello S; University of Pavia, Corso Strada Nuova 65, 27100, Pavia, Italy.
BMC Med Genomics ; 11(1): 87, 2018 Sep 29.
Article em En | MEDLINE | ID: mdl-30268123
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 14 / Anoftalmia / Microftalmia Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 14 / Anoftalmia / Microftalmia Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article