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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| Format: | Doctoral Thesis |
| Language: | English |
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Uppsala universitet, Institutionen för immunologi, genetik och patologi
2012
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| Online Access: | http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-183325 http://nbn-resolving.de/urn:isbn:978-91-554-8511-5 |