RASopathy Biorepository
Abroad (travel likely)Recruiting
Conditions
RAS Mutation · Neurofibromatosis 1 · Noonan Syndrome · Noonan Syndrome With Multiple Lentigines · Noonan Neurofibromatosis Syndrome · Cardiofaciocutaneous Syndrome · Costello Syndrome · Legius Syndrome · Smith-Kingsmore Syndrome · MTOR Gene Mutation · GATOR-1 Gene Mutation · SYNGAP1-Related Intellectual Disability · DLG4 · MAPK1 Gene Mutation
Simple summaryAI-assisted
This summary is produced by a language model and is experimental. It may be incomplete or inaccurate and is not a substitute for professional medical advice.
Locations
Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States
Contact: Study coordinator (Lindsey Aschbacher-Smith, MS) · Lindsey.Aschbacher-Smith@cchmc.org · 513.803.0077Contact: Principal Investigator (Carlos E Prada, MD)
Study leads
Kathryn N Weaver, MD
Principal Investigator
Children's Hospital Medical Center, Cincinnati