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
Topics & Concepts
BiologyGeneticsMissense mutationCraniosynostosisExome sequencingGenetic heterogeneityMutationGenePhenotypeBone Metabolism and DiseasesCraniofacial Disorders and TreatmentsTGF-β signaling in diseases