Sökning: "Sara Ekvall"

Hittade 1 avhandling innehållade orden Sara Ekvall.

1. 1. Genetic and Clinical Investigation of Noonan Spectrum Disorders

   Författare :Sara Ekvall; Marie-Louise Bondeson; Göran Andersson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RASopathies; Noonan syndrome; neurofibromatosis type 1; neurofibromatosis-Noonan syndrome; RAS-MAPK pathway; mutation; Medical Science; Medicinsk vetenskap;

   Sammanfattning : 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. LÄS MER