{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T09:35:57Z","timestamp":1771493757549,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2013,10,24]],"date-time":"2013-10-24T00:00:00Z","timestamp":1382572800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, <jats:italic>American Journal of Medical Genetics<\/jats:italic> 19:195\u2013207. The original article described a new family with a condition that the authors designated as the Perlman syndrome. This disorder, while uncommon, is an important multiple congenital anomaly and dysplasia syndrome; the causative gene was recently identified. This paper is a seminal work and is graciously republished by Wiley\u2010Blackwell in the Special Festschrift issue honoring Professor' Neri.<\/jats:p><jats:p><jats:boxed-text content-type=\"signatureBlock\" position=\"anchor\"><jats:p>John C. Carey<\/jats:p><jats:p>Editor\u2010in\u2010Chief<\/jats:p><\/jats:boxed-text><\/jats:p><\/jats:sec><jats:sec><jats:label\/><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. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36316","type":"journal-article","created":{"date-parts":[[2013,10,25]],"date-time":"2013-10-25T03:12:02Z","timestamp":1382670722000},"page":"2691-2696","source":"Crossref","is-referenced-by-count":5,"title":["The perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies"],"prefix":"10.1002","volume":"161","author":[{"given":"Giovanni","family":"Neri","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Shodair Children's Hospital Helena MT"},{"name":"Istituto di Genetica Umana Facolt\u00e0 di Medicina \u201cA.Gemelli\u201d, UCSC, Ospedale S. Giovanni Roma Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Enrica","family":"Martini\u2010Neri","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shodair Children's Hospital Helena MT"},{"name":"Istituto di Genetica Umana Facolt\u00e0 di Medicina \u201cA.Gemelli\u201d, UCSC, Ospedale S. Giovanni Roma Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ben E.","family":"Katz","sequence":"additional","affiliation":[{"name":"Pediatric Center Twin Falls ID"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shodair Children's Hospital Helena MT"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,10,24]]},"reference":[{"key":"e_1_2_6_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_6_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_6_4_1","unstructured":"GreenbergF SteinF GresikMV FinegoldMJ CarpenterRJ RiccardiVM BeaudetAL.1983. Fetal ascites \u201cprune belly\u201d sequence hepatomegaly and nephromegaly associated with Wilms'tumor. Program and Abstracts David W. Smith Morphogenesis meeting University of British Columbia Vancouver B.C. 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