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American Journal of Medical Genetics. Part A|February 21, 2018
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndromeLeonie A Menke, , Thatjana Gardeitchik, et al.Journal of Medical Genetics|October 17, 2018
Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndromeStefano Paolacci, Yun Li, Emanuele Agolini, et al.Human Molecular Genetics|April 8, 2014
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisElisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, et al.Pageof 6