A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

Jennifer J. Johnston, Monica Y. Sanchez-Contreras, Kim M. Keppler-Noreuil, Julie Sapp, Molly Crenshaw, Ni Cole A. Finch, Valerie Cormier-Daire, Rosa Rademakers, Virginia P. Sybert, Leslie G. Biesecker

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Medicine & Life Sciences