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De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
Timberlake, Andrew T; McGee, Stephen; Allington, Garrett; Kiziltug, Emre; Wolfe, Erin M; Stiegler, Amy L; Boggon, Titus J; Sanyoura, May; Morrow, Michelle; Wenger, Tara L; Fernandes, Erica M; Caluseriu, Oana; Persing, John A; Jin, Sheng Chih; Lifton, Richard P; Kahle, Kristopher T; Kruszka, Paul.
Afiliação
  • Timberlake AT; Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, New York, NY, USA.
  • McGee S; GeneDx, Gaithersburg, MD, USA.
  • Allington G; Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
  • Kiziltug E; Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
  • Wolfe EM; Division of Plastic and Reconstructive Surgery, University of Miami Hospital, Miami, FL, USA.
  • Stiegler AL; Department of Pharmacology, Yale University, New Haven, CT, USA.
  • Boggon TJ; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.
  • Sanyoura M; GeneDx, Gaithersburg, MD, USA.
  • Morrow M; GeneDx, Gaithersburg, MD, USA.
  • Wenger TL; Division of Genetic Medicine, University of Washington, Seattle, WA, USA.
  • Fernandes EM; Nemours Children's Health, Wilmington, DE, USA.
  • Caluseriu O; Department of Medical Genetics, University of Alberta, AB, Canada.
  • Persing JA; Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT, USA.
  • Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
  • Lifton RP; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA. Electronic address: rickl@rockefeller.edu.
  • Kahle KT; Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. Electronic address: kahle.kri
  • Kruszka P; GeneDx, Gaithersburg, MD, USA.
Am J Hum Genet ; 110(5): 846-862, 2023 05 04.
Article em En | MEDLINE | ID: mdl-37086723
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tretinoína / Craniossinostoses Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tretinoína / Craniossinostoses Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos