Full Study Name
Understanding the disorders of the RAS-MAPK pathway
Local Principal Investigator
Dr Emma Burkitt-Wright
- To characterise the clinical presentations of a group of patients with germline disorders of the RAS-MAPK pathway, including patients with Noonan, Costello syndrome, and those with features of cardio-facio-cutaneous syndrome
- To search for the genetic basis of the clinical presentation in patients with CFC and related disorders using newer types of genetic analysis including a) high resolution microarray analysis and b) high throughput sequencing.
- To make available any findings from this study so that they can be used to aid patient management and genetic counselling in the families involved.
Patients diagnosed with germline disorders of the RAS-MAPK pathway, including patients with Noonan, Costello syndrome, and those with features of cardio-facio-cutaneous syndrome
Birmingham, Cambridge, Cardiff, Leeds, Newcastle, North West London, Oxford, Exeter, Sheffield, Southampton, Bristol, Leicester
For more information click here