The Laboratory for Molecular Medicine (LMM) supports several research studies that are ongoing within the laboratory or in affiliation with other clinical research groups. For more information please click on the research study of interest.
This study examines genotype-phenotype correlations for individuals and families (children and adults) with Noonan syndrome and related disorders. Two groups will be examined: those that meet the diagnostic criteria for Noonan syndrome and those that do not quite meet the criteria but have a "Noonan-like" appearance or presentation. Participants in the study will have PTPN11 mutation analysis testing. In addition, a medical and family history will be taken and a physical exam completed. Coagulation studies, a renal ultrasound and an echocardiogram will be completed if they have not already been done by the referring physician. Results of all testing will be made available to the referring physician and study participant if so desired by the enrollee. Accommodations for participation can be made for patients unable to travel to Boston to be evaluated in person.
Contact Amy Roberts, MD (email@example.com, or 617-525-5768) for more information about study enrollment and inclusion criteria.
For more information about Noonan syndrome, see Resources.
To search for research studies and/or clinical trials not associated with our laboratory and its affiliated groups refer to the following: