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DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
White, Janson J; Mazzeu, Juliana F; Hoischen, Alexander; Bayram, Yavuz; Withers, Marjorie; Gezdirici, Alper; Kimonis, Virginia; Steehouwer, Marloes; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; van Bon, Bregje W M; Sutton, V Reid; Lupski, James R; Brunner, Han G; Carvalho, Claudia M B.
Afiliação
  • White JJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Mazzeu JF; Faculdade de Medicina, Universidade de Brasília, Brasília DF 70910900, Brazil; Robinow Syndrome Foundation, Anoka, MN 55303, USA.
  • Hoischen A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Withers M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
  • Kimonis V; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Orange, CA 92868, USA.
  • Steehouwer M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • van Bon BWM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 770
  • Brunner HG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands. Electronic address: han.brunner@radb
  • Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: cfonseca@bcm.edu.
Am J Hum Genet ; 98(3): 553-561, 2016 Mar 03.
Article em En | MEDLINE | ID: mdl-26924530
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoproteínas / Anormalidades Urogenitais / Éxons / Mutação da Fase de Leitura / Deformidades Congênitas dos Membros / Anormalidades Craniofaciais / Proteínas Adaptadoras de Transdução de Sinal / Nanismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoproteínas / Anormalidades Urogenitais / Éxons / Mutação da Fase de Leitura / Deformidades Congênitas dos Membros / Anormalidades Craniofaciais / Proteínas Adaptadoras de Transdução de Sinal / Nanismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos