The genetics and diagnosis of pediatric neurocutaneous disorders: Neurofibromatosis and tuberous sclerosis complex
Tolliver S, Smith Z, Silverberg N. The genetics and diagnosis of pediatric neurocutaneous disorders: Neurofibromatosis and tuberous sclerosis complex. Clinics In Dermatology 2022, 40: 374-382. PMID: 35248688, DOI: 10.1016/j.clindermatol.2022.02.010.Peer-Reviewed Original ResearchConceptsTuberous sclerosis complexMultiple organ systemsNeurocutaneous disorderTarget of rapamycin signaling pathwayClinical featuresGenetic sequencing technologiesSeizure controlLoss of tumor suppressionMitogen-activated protein kinaseCausative genetic mutationsRapamycin signaling pathwayAt-risk family membersSequencing technologiesMammalian target of rapamycin signaling pathwayBenign fibrous growthsCases of NFCafe-au-lait patchesOrgan systemsDisease-specific surveillanceAsh leaf spotsLeaf spotProtein kinaseMosaic conditionSignaling pathwayInstitution of interventions
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