The broad spectrum of cardiac lesions associated with NIPBL haploinsufficiency likely results from subtle transcriptional dysregulations of hundreds of genes.19 A patient with dysplastic aortic and pulmonary valve and borderline short stature was identified with a maternally inherited PTPN11 variant p.(Lys70Arg) for Noonan syndrome. This evidence concerns the gene NIPBL and Noonan syndrome.