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CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
Vilboux, Thierry; Malicdan, May Christine V; Roney, Joseph C; Cullinane, Andrew R; Stephen, Joshi; Yildirimli, Deniz; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C; Steinbach, Peter J; Gahl, William A; Gunay-Aygun, Meral.
Afiliação
  • Vilboux T; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Malicdan MC; Inova Translational Medicine Institute, Falls Church, Virginia.
  • Roney JC; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Cullinane AR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.
  • Stephen J; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Yildirimli D; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Bryant J; Department of Anatomy, Howard University College of Medicine, Washington DC.
  • Fischer R; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Vemulapalli M; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Mullikin JC; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Steinbach PJ; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Gahl WA; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Gunay-Aygun M; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Am J Med Genet A ; 173(3): 661-666, 2017 Mar.
Article em En | MEDLINE | ID: mdl-28052552
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Caderinas / Cerebelo / Anormalidades do Olho / Microftalmia / Hormônio do Crescimento Humano / Doenças Renais Císticas / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Caderinas / Cerebelo / Anormalidades do Olho / Microftalmia / Hormônio do Crescimento Humano / Doenças Renais Císticas / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article