Sökning: "RAS-MAPK syndromes"
Hittade 1 avhandling innehållade orden RAS-MAPK syndromes.
1. RAS-MAPK syndromes - a Clinical and Molecular Investigation
Sammanfattning : The RAS-MAPK syndromes are a group of clinically and genetically related disorders, characterized by cardiac defects, facial dysmorphism, cutaneous abnormalities and neurocognitive impairment. The pathogenesis is dysregulation of the RAS-MAPK pathway, and several genes within the pathway are involved. LÄS MER
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