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De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

Andrew T. Timberlake, Emre Kiziltug, Sheng Chih Jin, Carol Nelson‐Williams, Erin Loring, August Allocco, Arnaud Marlier, Siddharth Banka, Helen M. Stuart, Maria Rita Passos-Buenos, Rafael Fabiano Machado Rosa, Sílvia Regina Rogatto, Elin Tønne, Amy L. Stiegler, Titus J. Boggon, Michael Alperovich, Derek M. Steinbacher, David A. Staffenberg, Roberto L. Flores, John A. Persing, Kristopher T. Kahle, Richard P. Lifton

2022Human Genetics19 citationsDOI

Topics & Concepts

BiologyGeneticsMissense mutationCraniosynostosisExome sequencingGenetic heterogeneityMutationGenePhenotypeBone Metabolism and DiseasesCraniofacial Disorders and TreatmentsTGF-β signaling in diseases
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis | Litcius