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Noonan Syndrome
Toxic gain function

Noonan Syndrome

  • Genotype

    ptpn11

  • Mechanism

    Toxic gain function

  • Phenotype

    Cognitive impairment, Attention deficits, Social isolation, Hyperactivity, Motor coordination, Anxiety, Sensory impairment

  • Biomarker

    Troponin, IL 6, Insulin, Glucose, Growth hormone

  • Gene Expression Markers

    KRAS,RAF1, MAP2K1, MAPK1, FOS, DLG4, NRXN1, CCND1, MYC

  • Physiology Changes

    Reduced growth, Congenital heart defects, Abnormal bone structure

  • Histology Grading Endpoint

    Cardiomyocyte hypertrophy,Disorganized myocardial fibers, Dilated lymphatic vessels, Cortical abnormalities

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