{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:35:39Z","timestamp":1791477339060,"version":"4.3.4"},"reference-count":62,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,9,26]],"date-time":"2018-09-26T00:00:00Z","timestamp":1537920000000},"content-version":"vor","delay-in-days":25,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Autism Centers of Excellence","award":["R01 NIH\/NINDS\/NICHD 3U01NS082320"],"award-info":[{"award-number":["R01 NIH\/NINDS\/NICHD 3U01NS082320"]}]},{"name":"Rare Disease Clinical Research Network","award":["NIH 1U54NS092090"],"award-info":[{"award-number":["NIH 1U54NS092090"]}]},{"name":"Preventing Epilepsy using Vigabatrin in Infants with Tuberous Sclerosis Complex","award":["NICHD 1U01NS092595"],"award-info":[{"award-number":["NICHD 1U01NS092595"]}]},{"name":"Chan Soon-Shiong Family Foundation"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:p>Tuberous Sclerosis Complex (TSC) is a multisystem autosomal dominant condition caused by inactivating pathogenic variants in either the <jats:italic>TSC1<\/jats:italic> or the <jats:italic>TSC2<\/jats:italic> gene, leading to hyperactivation of the mTOR pathway. Here, we present an update on the genetic and genomic aspects of TSC, with a focus on clinical and laboratory practice. We briefly summarize the structure of <jats:italic>TSC1<\/jats:italic> and <jats:italic>TSC2<\/jats:italic> as well as their protein products, and discuss current diagnostic testing, addressing mosaicism. We consider genotype\u2013phenotype correlations as an example of precision medicine, and discuss genetic counseling in TSC, with the aim of providing geneticists and health care practitioners involved in the care of TSC individuals with useful tools for their practice.<\/jats:p>","DOI":"10.1002\/ajmg.c.31651","type":"journal-article","created":{"date-parts":[[2018,9,26]],"date-time":"2018-09-26T12:09:12Z","timestamp":1537963752000},"page":"281-290","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":98,"title":["Genetics, genomics, and genotype\u2013phenotype correlations of TSC: Insights for clinical practice"],"prefix":"10.1002","volume":"178","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1769-6548","authenticated-orcid":false,"given":"Angela","family":"Peron","sequence":"first","affiliation":[{"name":"Child Neuropsychiatry Unit\u2013Epilepsy Center (Service of Medical Genetics), San Paolo Hospital, Department of Health 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