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Turner's Syndrome
Loss of Function

Turner's Syndrome

  • Genotype

     ppp2r3b

  • Mechanism

    Loss of Function

  • Phenotype

    Visual and spatial processing deficits, Anxiety, Social isolation, Motor coordination, Exploratory activity, Cognitive deficits

  • Biomarker

    Growth hormones, Gonadotrophins - Follicle Stimulating Hormone (FSH),Luteinizing Hormone (LH), Total Cholesterol, Insulin, CRP

  • Gene Expression Markers

    KDM6A, EIF2S3, BDNF, DLG4 , NRXN1,CAMK2A, GRIN1 , GH1, IGF1, VEGFA, FOXL2 

  • Physiology Changes

    Jaw dysmorphism, Reduced body size, Hypothyroidism, Gonadal dysgenesis, Aortic abnormalities, posture, Scoliosis

  • Histology Grading Endpoint

    Streak ovaries with fibrous tissue replacement, Absence of ovarian follicles, Degeneration of germ cells, Structural abnormalities in aortic wall, Cortical structural changes

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