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American Journal of Medical Genetics. Part A|December 31, 2021
Congenital heart defects in molecularly confirmed KBG syndrome patientsMaria Cristina Digilio, Giulio Calcagni, Maria Gnazzo, et al.American Journal of Medical Genetics. Part A|March 4, 2020
KBG syndrome: Common and uncommon clinical features based on 31 new patientsMaria Gnazzo, Francesca R Lepri, Maria Lisa Dentici, et al.American Journal of Human Genetics|May 28, 2019
Activating Mutations of RRAS2 Are a Rare Cause of Noonan SyndromeYline Capri, Elisabetta Flex, Oliver H F Krumbach, et al.Brain : a Journal of Neurology|April 16, 2020
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of functionMonica Zilmer, Andrew C Edmondson, Sumeet A Khetarpal, et al.Pageof 2