{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T16:56:16Z","timestamp":1773420976139,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,9,4]],"date-time":"2016-09-04T00:00:00Z","timestamp":1472947200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pathology International"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:p>Timothy syndrome (TS) is a congenital long QT syndrome that is associated with syndactyly and mutations in <jats:italic>CACNA1C<\/jats:italic>, encoding an L\u2010type voltage\u2010dependent calcium channel, Cav1.2. Recently, TS has been associated with autism and other psychological disorders. This case indicated bradycardia by prenatal screening and was diagnosed as TS by the occurrence of syndactyly and QT prolongation at birth. Despite therapy with anti\u2010arrhythmia reagents and a pacemaker, the patient died 2 months after birth and was autopsied. The heart showed mild dilation and mild hypertrophy with a focal disarray pattern, which may be inconsistent with typical cardiomyopathy. Unexpectedly, bilateral adrenal glands showed marked shrinkage and severe fibrosis of the medulla with a small number of single\u2010strand DNA positive medullary cells and accumulation of hemosiderin\u2010containing macrophages. This finding suggests that <jats:italic>CACNA1C<\/jats:italic> mutation may induce drop\u2010out of medulla cells via apoptosis. This may be due to increased concentration of calcium ions consistent with Cav1.2 expression in adrenal glands as well as in the brain and the heart. This is the first report describing a systemic autopsy of TS with adrenal medullary dystrophy.<\/jats:p>","DOI":"10.1111\/pin.12456","type":"journal-article","created":{"date-parts":[[2016,9,5]],"date-time":"2016-09-05T03:12:16Z","timestamp":1473045136000},"page":"587-592","source":"Crossref","is-referenced-by-count":13,"title":["A case of Timothy syndrome with adrenal medullary dystrophy"],"prefix":"10.1111","volume":"66","author":[{"given":"Miho","family":"Kawaida","sequence":"first","affiliation":[{"name":"Department of Pathology Keio University School of Medicine  35 Shinanomachi, Shinjuku\u2010ku Tokyo Japan"},{"name":"Divion of Diagnostic Pathology Keio University Hospital  35 Shinanomachi, Shinjuku\u2010ku Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tokiya","family":"Abe","sequence":"additional","affiliation":[{"name":"Department of Pathology Keio University School of Medicine  35 Shinanomachi, Shinjuku\u2010ku Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Nakanishi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Tokyo Women's Medical University  8\u20131, Kawada\u2010cho, Shinjuku\u2010ku Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Miyahara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine  35 Shinanomachi, Shinjuku\u2010ku Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Yamagishi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine  35 Shinanomachi, Shinjuku\u2010ku Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michiie","family":"Sakamoto","sequence":"additional","affiliation":[{"name":"Department of Pathology Keio University School of Medicine  35 Shinanomachi, Shinjuku\u2010ku Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taketo","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Pathology Keio University School of Medicine  35 Shinanomachi, Shinjuku\u2010ku Tokyo Japan"},{"name":"Department of Pathology Saitama Medical University  38 Morohongo, Moroyamacho, Iruma Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,9,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0502506102"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34355"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0735-1097(94)00318-K"},{"key":"e_1_2_7_5_1","first-page":"1165","volume-title":"Histology for pathologists","author":"Carney JA","year":"2007"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(99)80216-1"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2004.09.011"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-94-007-2888-2_38"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2012.11.013"},{"key":"e_1_2_7_10_1","series-title":"Extended version","volume-title":"Molecular Biology of THE CELL","author":"Alberts B","year":"2008"}],"container-title":["Pathology International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpin.12456","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpin.12456","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pin.12456","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pin.12456","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pin.12456","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T02:29:22Z","timestamp":1694226562000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pin.12456"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,4]]},"references-count":9,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1111\/pin.12456"],"URL":"https:\/\/doi.org\/10.1111\/pin.12456","archive":["Portico"],"relation":{},"ISSN":["1320-5463","1440-1827"],"issn-type":[{"value":"1320-5463","type":"print"},{"value":"1440-1827","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,4]]}}}