Shp2 is a cytoplasmic protein-tyrosine phosphatase that is essential for normal development. Activating and inactivating mutations have been identified in humans to cause the related Noonan and LEOPARD syndromes, respectively. The cell biological cause of these syndromes remains to be determined. We have used the zebrafish to assess the role of Shp2 in early development. Here, we report that mo...

. LEOPARD syndrome 2 (LS-2) (OMIM #611554) is a rare, dominantly inherited genetic disorder affecting multiple organ systems. We report two unrelated females of different ages whose phenotype fits best in the category of LEOPARD syndrome, both with proven mutations in the RAF1 gene not previouslyreported in pediatric patients. In our 10-year-old patient, who was negative in the PTPN11 gene anal...

LEOPARD syndrome is an autosomal dominant genetic disorder involving a complex of malformations and other features, including lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, growth retardation, and sensorineural deafness. The most common cardiovascular manifestations of this condition are pulmonary valve stenosis, ...