{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T04:13:11Z","timestamp":1778299991589,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7580,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the \u201cPerlman syndrome.\u201d It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.<\/jats:p>","DOI":"10.1002\/ajmg.1320190120","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:50:11Z","timestamp":1118519411000},"page":"195-207","source":"Crossref","is-referenced-by-count":61,"title":["The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies"],"prefix":"10.1002","volume":"19","author":[{"given":"Giovanni","family":"Neri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Enrica","family":"Martini\u2010Neri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ben E.","family":"Katz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(196908)24:2<323::AID-CNCR2820240215>3.0.CO;2-K"},{"key":"e_1_2_1_3_1","first-page":"185","article-title":"The nephroblastomatosis complex and its relationship to Wilms' tumor: A clinicopathologic treatise","volume":"7","author":"Bove KE","year":"1976","journal-title":"Persp Pediatr Pathol"},{"key":"e_1_2_1_4_1","unstructured":"GreenbergF SteinF GresikMV FinegoldMJ CarpenterRJ RiccardiVM BeaudetAL(1983):Fetal Ascites \u201cPrune Belly\u201d Sequence Hepatomegaly and Nephromegaly Associated With Wilms' Tumor. 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Wilms' tumor, cardiac hamartoma, persistent visceromegaly and glomeruloneogenesis in a 2\u2010year\u2010old boy","volume":"94","author":"Reddy JK","year":"1972","journal-title":"Arch Pathol"},{"key":"e_1_2_1_13_1","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1542\/peds.61.4.604","article-title":"Chromosomal imbalance in the aniridia\u2010Wilms' tumor association: llp interstitial deletion","volume":"61","author":"Riccardi VM","year":"1978","journal-title":"Pediatrics"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320190120","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320190120","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T00:27:14Z","timestamp":1697761634000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320190120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,9]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1984,9]]}},"alternative-id":["10.1002\/ajmg.1320190120"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320190120","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,9]]}}}