{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T22:20:33Z","timestamp":1792016433251,"version":"4.4.0"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,2,2]],"date-time":"2012-02-02T00:00:00Z","timestamp":1328140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:p>Black ME, Hedgire SS, Camposano S, Paul E, Harisinghani M, Thiele EA. Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis.<\/jats:p><jats:p>A retrospective review of the clinical records and radiological images of 205 patients with tuberous sclerosis complex (TSC) was performed to evaluate the prevalence and progression of hepatic lesions; examine the association of hepatic phenotype with genotype, age, and gender; and investigate the relationships between hepatic, renal, and pulmonary involvement. Hepatic angiomyolipomas (AML), cysts, and other benign lesions were identified in 30% of the cohort, and some lesions grew significantly over time. However, no patient had clinical symptoms or complications from hepatic lesions. <jats:italic>TSC2<\/jats:italic> patients exhibited a higher frequency of AML compared to <jats:italic>TSC1<\/jats:italic> patients (p = 0.037), and patients with no mutation identified exhibited a higher frequency of cysts compared to <jats:italic>TSC2<\/jats:italic> patients (p = 0.023). Age was positively correlated with frequency of hepatic involvement (p &lt; 0.001), whereas hepatic phenotype was independent of gender. Presence of hepatic AML was associated with presence of renal AML (p = 0.001). These findings confirm a high rate of asymptomatic hepatic lesions in TSC and further characterize the TSC phenotype.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2012.01845.x","type":"journal-article","created":{"date-parts":[[2012,1,17]],"date-time":"2012-01-17T19:33:08Z","timestamp":1326828788000},"page":"552-557","source":"Crossref","is-referenced-by-count":36,"title":["Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis"],"prefix":"10.1111","volume":"82","author":[{"given":"ME","family":"Black","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SS","family":"Hedgire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Camposano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Paul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Harisinghani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"EA","family":"Thiele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,2,2]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90618-Z"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5327.805"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2009.05117.x"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.6.480"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.2004.05046.x"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ki.5001853"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(05)64440-0"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200409-1298OC"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307389901400610"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1086\/316951"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1048567"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.67.11.1363"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.182.4.1821027"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0023379"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2008.10.026"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201402"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31803068c7"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2008.00496.x"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0801-z"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004728-199903000-00025"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00184248"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa063564"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1177\/08830738040190091201"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2012.01845.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2012.01845.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T17:37:03Z","timestamp":1698773823000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2012.01845.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,2]]},"references-count":23,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1111\/j.1399-0004.2012.01845.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2012.01845.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,2]]}}}