{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:06:21Z","timestamp":1775804781751,"version":"3.50.1"},"reference-count":45,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T00:00:00Z","timestamp":1761436800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T00:00:00Z","timestamp":1761436800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We conducted a retrospective chart review of 142 patients with tuberous sclerosis complex (TSC) seen in a multidisciplinary clinic between 2008 and 2023 to describe patients' clinical and genetic characteristics, disease severity, therapy, and genetic variations. The most common manifestations of TSC were neurological, dermatological, and renal involvements. Among 100 patients who underwent genetic testing, 26% and 62% were positive for\n                    <jats:italic>TSC1<\/jats:italic>\n                    and\n                    <jats:italic>TSC2<\/jats:italic>\n                    variants, respectively, and 12% had no pathogenic variant identified. Specific disease\u2010causing variants in the TSC gene were characterized in 62.0% of patients. As shown in previous studies, patients in our cohort carrying\n                    <jats:italic>TSC2<\/jats:italic>\n                    variants tended to have more severe and earlier onset symptoms, including higher rates of skin and renal involvement, infantile spasms, and TSC\u2010associated neuropsychiatric disorders. We also identified two distinct clinical subgroups: one characterized by predominant renal involvement and the other by more pronounced neurological manifestations. These groups seem to follow different disease courses, suggesting potential for more personalized monitoring and treatment approaches. Our study revealed key differences between TSC patients with\n                    <jats:italic>TSC1<\/jats:italic>\n                    and\n                    <jats:italic>TSC2<\/jats:italic>\n                    variants, but the retrospective analysis warrants further research to identify early indicators predicting TSC disease course.\n                  <\/jats:p>","DOI":"10.1111\/cge.70096","type":"journal-article","created":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T05:47:53Z","timestamp":1761544073000},"page":"697-706","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Retrospective Cross\u2010Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-0464-3964","authenticated-orcid":false,"given":"Hila","family":"Weisblum Neuman","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit The Edmond and Lily Safra Children's Hospital, Sheba Medical Center  Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Via Dorembus","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit The Edmond and Lily Safra Children's Hospital, Sheba Medical Center  Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omer","family":"Shlomovitz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics B Sheba Medical Center  Ramat Gan Israel"},{"name":"Gray Faculty of Medical and Health Sciences, Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8308-2790","authenticated-orcid":false,"given":"Shoshana","family":"Greenberger","sequence":"additional","affiliation":[{"name":"Gray Faculty of Medical and Health Sciences, Tel\u2010Aviv University  Tel\u2010Aviv 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