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De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

Andrew T. Timberlake, Stephen McGee, Garrett Allington, Emre Kiziltug, Erin M. Wolfe, Amy L. Stiegler, Titus J. Boggon, May Sanyoura, Michelle M. Morrow, Tara Wenger, Erica M. Fernandes, Oana Caluseriu, John A. Persing, Sheng Chih Jin, Richard P. Lifton, Kristopher T. Kahle, Paul Kruszka

2023The American Journal of Human Genetics20 citationsDOIOpen Access PDF

Topics & Concepts

GeneticsBiologyProbandChromatinExomeGenePhenotypeExome sequencingMutationCraniofacial Disorders and TreatmentsCleft Lip and Palate ResearchOcular Disorders and Treatments
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis | Litcius