Your browser doesn't support javascript.
loading
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.
Errichiello, Edoardo; Gorgone, Cristina; Giuliano, Loretta; Iadarola, Barbara; Cosentino, Emanuela; Rossato, Marzia; Kurtas, Nehir Edibe; Delledonne, Massimo; Mattina, Teresa; Zuffardi, Orsetta.
Afiliação
  • Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address: edoardo.errichiello01@universitadipavia.it.
  • Gorgone C; Speciality School of Medical Genetics, University of Catania, Catania, Italy.
  • Giuliano L; Department of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia", University of Catania, Catania, Italy.
  • Iadarola B; Department of Biotechnologies, University of Verona, Verona, Italy.
  • Cosentino E; Department of Biotechnologies, University of Verona, Verona, Italy.
  • Rossato M; Department of Biotechnologies, University of Verona, Verona, Italy.
  • Kurtas NE; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Delledonne M; Department of Biotechnologies, University of Verona, Verona, Italy.
  • Mattina T; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
  • Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Eur J Med Genet ; 61(6): 335-340, 2018 Jun.
Article em En | MEDLINE | ID: mdl-29371155
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades do Olho / Fatores de Transcrição SOXB1 / Genitália Feminina / Mutação 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: Anormalidades do Olho / Fatores de Transcrição SOXB1 / Genitália Feminina / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article