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Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis.
Timberlake, Andrew T; Jin, Sheng Chih; Nelson-Williams, Carol; Wu, Robin; Furey, Charuta G; Islam, Barira; Haider, Shozeb; Loring, Erin; Galm, Amy; Steinbacher, Derek M; Larysz, Dawid; Staffenberg, David A; Flores, Roberto L; Rodriguez, Eduardo D; Boggon, Titus J; Persing, John A; Lifton, Richard P.
Afiliação
  • Timberlake AT; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
  • Jin SC; Hansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center, New York, NY 10016.
  • Nelson-Williams C; Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT 06510.
  • Wu R; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065.
  • Furey CG; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
  • Islam B; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065.
  • Haider S; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
  • Loring E; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065.
  • Galm A; Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT 06510.
  • Steinbacher DM; School of Pharmacy, University College London, London WC1N 1AX, United Kingdom.
  • Larysz D; Centre for Biomarker Research, School of Applied Sciences, University of Huddersfield, Queensgate, Huddersfield HD1 3DH, United Kingdom.
  • Staffenberg DA; School of Pharmacy, University College London, London WC1N 1AX, United Kingdom.
  • Flores RL; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
  • Rodriguez ED; Craniosynostosis and Positional Plagiocephaly Support, New York, NY 10010.
  • Persing JA; Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT 06510.
  • Lifton RP; Department of Radiotherapy, The Maria Sklodowska Curie Memorial Cancer Centre and Institute of Oncology, 44-101 Gliwice, Poland.
Proc Natl Acad Sci U S A ; 116(30): 15116-15121, 2019 07 23.
Article em En | MEDLINE | ID: mdl-31292255
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Craniossinostoses / Histona Acetiltransferases / Alfa Catenina / Fator de Transcrição AP-2 / Glipicanas / Fatores de Transcrição SOXC / Proteína Gli2 com Dedos de Zinco / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Craniossinostoses / Histona Acetiltransferases / Alfa Catenina / Fator de Transcrição AP-2 / Glipicanas / Fatores de Transcrição SOXC / Proteína Gli2 com Dedos de Zinco / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2019 Tipo de documento: Article