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Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
Malicdan, May Christine V; Vilboux, Thierry; Stephen, Joshi; Maglic, Dino; Mian, Luhe; Konzman, Daniel; Guo, Jennifer; Yildirimli, Deniz; Bryant, Joy; Fischer, Roxanne; Zein, Wadih M; Snow, Joseph; Vemulapalli, Meghana; Mullikin, James C; Toro, Camilo; Solomon, Benjamin D; Niederhuber, John E; Gahl, William A; Gunay-Aygun, Meral.
Afiliação
  • Malicdan MC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Vilboux T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Virginia, USA.
  • Stephen J; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Maglic D; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Mian L; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Konzman D; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Guo J; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Yildirimli D; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Bryant J; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Fischer R; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Zein WM; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Snow J; Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA.
  • Vemulapalli M; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Mullikin JC; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
  • Solomon BD; Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Virginia, USA.
  • Niederhuber JE; Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia, USA.
  • Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Office of the Clinical Director, National Human Geno
  • Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
J Med Genet ; 52(12): 830-9, 2015 Dec.
Article em En | MEDLINE | ID: mdl-26386044
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Síndrome de Ellis-Van Creveld / Cerebelo / Anormalidades do Olho / Proteínas de Ciclo Celular / Doenças Renais Císticas Tipo de estudo: Prognostic_studies Limite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Síndrome de Ellis-Van Creveld / Cerebelo / Anormalidades do Olho / Proteínas de Ciclo Celular / Doenças Renais Císticas Tipo de estudo: Prognostic_studies Limite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article