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A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Dinckan, Nuriye; Du, Renqian; Akdemir, Zeynep C; Bayram, Yavuz; Jhangiani, Shalini N; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M; Guven, Yeliz; Aktoren, Oya; Kayserili, Hulya; Boerwinkle, Eric; Gibbs, Richard A; Posey, Jennifer E; Lupski, James R; Uyguner, Zehra O; Letra, Ariadne.
  • Dinckan N; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Du R; Center for Craniofacial Research, University of Texas Health Science Center at Houston School of Dentistry, Houston, Texas.
  • Akdemir ZC; 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.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Hu J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Guven Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Aktoren O; Department of Pedodontics, Faculty of Dentistry, Istanbul University, Capa, Istanbul, Turkey.
  • Kayserili H; Department of Pedodontics, Faculty of Dentistry, Istanbul University, Capa, Istanbul, Turkey.
  • Boerwinkle E; Department of Medical Genetics, School of Medicine, Koc University, Istanbul, Turkey.
  • Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Posey JE; Human Genetics Center, University of Texas Health Science Center at Houston School of Public Health, Houston, Texas.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Uyguner ZO; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Letra A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Am J Med Genet A ; 176(4): 1015-1022, 2018 04.
Article en En | MEDLINE | ID: mdl-29436111
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Receptores de Superficie Celular / Alelos / Estudios de Asociación Genética / Anodoncia / Mutación / Proteínas de Neoplasias Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Child / Humans / Male Idioma: En Año: 2018 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Receptores de Superficie Celular / Alelos / Estudios de Asociación Genética / Anodoncia / Mutación / Proteínas de Neoplasias Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Child / Humans / Male Idioma: En Año: 2018 Tipo del documento: Article