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Clinical features of CFC and CS, and other rasopathies

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Uploaded by on Oct 30, 2011

Clinical features of CFC and CS, and other RASopathies, presented by Dr Emma Burkitt-Wright,

This presentation was made at the at the 2011 UK Costello & CFC conference October 2011

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Education

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  • I currently suffer from an unknown rasopathy I have multiple cafe au lait spots, skinfold freckling, giant cell lesions(mainly in upper and lower jaw) some soft tissue giant cell lesions, devlopmental delays in early childhood, and a rhabdomyosarcoma when I was 3. Strangly I do not have any heart defects, facial characteristics of noonan syndrome, or neurofibroams, or lisch nodules (am 26 years old.)

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