Genetic and Clinical Investigation of Noonan Spectrum Disorders

Noonan spectrum disorders belong to the RASopathies, a group of clinically related developmental disorders caused by dysregulation of the RAS-MAPK pathway. This thesis describes genetic and clinical investigations of six families with Noonan spectrum disorders. In the first family, the index patient...

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Bibliographic Details
Main Author: Ekvall, Sara
Format: Doctoral Thesis
Published: Uppsala universitet, Institutionen för immunologi, genetik och patologi 2012
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