NOONAN SYNDROME AS RESULT OF MUTATION p. S257L OF GENE RAF1: CLINICAL CASE AND REVIEW
Noonan syndrome is clinically and genetically heterogenic disease caused by mutations in genes coding the proteins of universal cascade of cellular signalling Ras-MAPK. Recently, about 10 genes known, with mutations leading to the disease development. Among multiple manifestations of the syndrome mo...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
«FIRMA «SILICEA» LLC
2016-10-01
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| Series: | Российский кардиологический журнал |
| Subjects: | |
| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/958 |