Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits

Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown. Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and...

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Detalhes bibliográficos

Principais autores:	Paola Nicoletti, Samreen Zafer, Lital Matok, Inbar Irron, Meidva Patrick, Rotem Haklai, John Erol Evangelista, Giacomo B. Marino, Avi Ma’ayan, Anshuman Sewda, Greg Holmes, Sierra R. Britton, Won Jun Lee, Meng Wu, Ying Ru, Eric Arnaud, Lorenzo Botto, Lawrence C. Brody, Jo C. Byren, Michele Caggana, Suzan L. Carmichael, Deirdre Cilliers, Kristin Conway, Karen Crawford, Araceli Cuellar, Federico Di Rocco, Michael Engel, Jeffrey Fearon, Marcia L. Feldkamp, Richard Finnell, Sarah Fisher, Christian Freudlsperger, Gemma Garcia-Fructuoso, Rhinda Hagge, Yann Heuzé, Raymond J. Harshbarger, Charlotte Hobbs, Meredith Howley, Mary M. Jenkins, David Johnson, Cristina M. Justice, Alex Kane, Denise Kay, Arun Kumar Gosain, Peter Langlois, Laurence Legal-Mallet, Angela E. Lin, James L. Mills, Jenny E.V. Morton, Peter Noons, Andrew Olshan, John Persing, Julie M. Phipps, Richard Redett, Jennita Reefhuis, Elias Rizk, Thomas D. Samson, Gary M. Shaw, Robert Sicko, Nataliya Smith, David Staffenberg, Joan Stoler, Elizabeth Sweeney, Peter J. Taub, Andrew T. Timberlake, Jolanta Topczewska, Steven A. Wall, Alexander F. Wilson, Louise C. Wilson, Simeon A. Boyadjiev, Andrew O.M. Wilkie, Joan T. Richtsmeier, Ethylin Wang Jabs, Paul A. Romitti, David Karasik, Ramon Y. Birnbaum, Inga Peter
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2024-01-01
Colecção:	Genetics in Medicine Open
Assuntos:	Coronal Nonsyndromic Craniosynostosis DLX6 DLX5 GWAS Regulatory elements SEM1
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S294977442400997X
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