Fragile X syndrome (FXS) 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.
Yrigollen, C.m., Pacini, L., Nobile, V., Lozano, R., Hagerman, R.j., Bagni, C., et al. (2016). Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis. JOURNAL OF GENETIC DISORDERS & GENETIC REPORTS, 5(3) [10.4172/2327-5790.1000139].
Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis
Bagni, ClaudiaMembro del Collaboration Group
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2016-01-01
Abstract
Fragile X syndrome (FXS) 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
