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Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
Jacquinet, Adeline; Brown, Lindsay; Sawkins, Jessica; Liu, Pengfei; Pugash, Denise; Van Allen, Margot I; Patel, Millan S.
Afiliação
  • Jacquinet A; Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Center for Human Genetics, Centre Hospitalier Universitaire and University of Liège, Liège, Belgium. Electronic address: adeline.jacquinet@chu.ulg.ac.be.
  • Brown L; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.
  • Sawkins J; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA.
  • Pugash D; Department of Radiology, University of British Columbia, Vancouver, Canada.
  • Van Allen MI; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
  • Patel MS; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Eur J Med Genet ; 61(5): 257-261, 2018 May.
Article em En | MEDLINE | ID: mdl-29278735
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Holoprosencefalia / Fenda Labial / Fissura Palatina / Proteínas de Ligação a DNA / Anemia de Fanconi Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Holoprosencefalia / Fenda Labial / Fissura Palatina / Proteínas de Ligação a DNA / Anemia de Fanconi Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2018 Tipo de documento: Article