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Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: comments on the article by Pereza et al. [2012].
Pereza, Nina; Severinski, Srecko; Ostojic, Sasa; Volk, Marija; Maver, Ales; Dekanic, Kristina Baraba; Kapovic, Miljenko; Peterlin, Borut.
Afiliação
  • Pereza N; Department of Biology and Medical Genetics, Faculty of medicine, University of Rijeka, Rijeka, Croatia.
  • Severinski S; Department of Intensive Care, Neurology and Metabolic Diseases, Clinics for Children's Diseases, Clinical Hospital Centre Rijeka, Rijeka, Croatia.
  • Ostojic S; Department of Biology and Medical Genetics, Faculty of medicine, University of Rijeka, Rijeka, Croatia.
  • Volk M; Department of Gynaecology and Obstetrics, Institute of Medical Genetics, UMC Ljubljana, Ljubljana, Slovenia.
  • Maver A; Department of Gynaecology and Obstetrics, Institute of Medical Genetics, UMC Ljubljana, Ljubljana, Slovenia.
  • Dekanic KB; Department of Intensive Care, Neurology and Metabolic Diseases, Clinics for Children's Diseases, Clinical Hospital Centre Rijeka, Rijeka, Croatia.
  • Kapovic M; Department of Biology and Medical Genetics, Faculty of medicine, University of Rijeka, Rijeka, Croatia.
  • Peterlin B; Department of Gynaecology and Obstetrics, Institute of Medical Genetics, UMC Ljubljana, Ljubljana, Slovenia.
Am J Med Genet A ; 167(6): 1426-7, 2015 Jun.
Article em En | MEDLINE | ID: mdl-25899858

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Cromossomos Humanos Par 8 / Síndrome de Langer-Giedion / Deleção Cromossômica / Deleção de Genes / Proteínas de Ligação a DNA Limite: Female / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Cromossomos Humanos Par 8 / Síndrome de Langer-Giedion / Deleção Cromossômica / Deleção de Genes / Proteínas de Ligação a DNA Limite: Female / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article