Clinical Evaluation

X syndrome and Tuberous Sclerosis (TSC) are genetic disorders that result
in intellectual disability and an increased prevalence of Autism Spectrum
Disorders (ASD). While the clinical presentation of each disorder is distinct,
the molecular causes are linked to a disruption in the mTORC1 (mammalian
Target of Rapamycin Complex 1) and ERK1/2 (Extracellular signal-Regulated
Kinase) signaling pathways.

Author(s): Daniel Archer

Abstract | PDF

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