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Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Karaca, Ender; Yuregir, Ozge O; Bozdogan, Sevcan T; Aslan, Huseyin; Pehlivan, Davut; Jhangiani, Shalini N; Akdemir, Zeynep C; Gambin, Tomasz; Bayram, Yavuz; Atik, Mehmed M; Erdin, Serkan; Muzny, Donna; Gibbs, Richard A; Lupski, James R.
Afiliação
  • Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Yuregir OO; Department of Medical Genetics, Numune Training and Research Hospital, Adana, Turkey.
  • Bozdogan ST; Department of Medical Genetics, Mersin University, Mersin, Turkey.
  • Aslan H; Department of Medical Genetics, Medical Faculty of Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Akdemir ZC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Atik MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Erdin S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Muzny D; Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts.
  • Gibbs RA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Am J Med Genet A ; 167A(11): 2795-9, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26238661
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Receptores Notch / Síndrome de Klippel-Feil / Mutação Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Receptores Notch / Síndrome de Klippel-Feil / Mutação Idioma: En Ano de publicação: 2015 Tipo de documento: Article