{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T07:04:49Z","timestamp":1792047889099,"version":"4.4.0"},"reference-count":38,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2013,10,7]],"date-time":"2013-10-07T00:00:00Z","timestamp":1381104000000},"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:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition mainly characterized by the development of mandibular keratocysts which often have their onset during the second decade of life and\/or multiple basal cell carcinoma (BCC) normally arising during the third decade. Cardiac and ovarian fibromas can be found. Patients with NBCCS develop the childhood brain malignancy medulloblastoma (now often called primitive neuro\u2010ectodermal tumor [PNET]) in 5% of cases. The risk of other malignant neoplasms is not clearly increased, although lymphoma and meningioma can occur in this condition. Wilms tumor has been mentioned in the literature four times. We describe a patient with a 10.9\u2009Mb 9q22.3 deletion spanning 9q22.2 through 9q31.1 that includes the entire codifying sequence of the gene <jats:italic>PTCH1<\/jats:italic>, with Wilms tumor, multiple neoplasms (lung, liver, mesenteric, gastric and renal leiomyomas, lung typical carcinoid tumor, adenomatoid tumor of the pleura) and a severe clinical presentation. We propose including leiomyomas among minor criteria of the NBCCS. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36259","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T02:23:34Z","timestamp":1381544614000},"page":"2894-2901","source":"Crossref","is-referenced-by-count":20,"title":["Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC\u2010C loci"],"prefix":"10.1002","volume":"161","author":[{"given":"Livia","family":"Garavelli","sequence":"first","affiliation":[{"name":"Clinical Genetics Unit, Obstetric and Paediatric Department Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S Maria Nuova Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rosaria","family":"Piemontese","sequence":"additional","affiliation":[{"name":"Department of Evolutive Age, Medical Genetics Unit Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo Foggia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Cavazza","sequence":"additional","affiliation":[{"name":"Department of Pathology Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S. 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Maria Nuova Reggio Emilia Italy"},{"name":"Department of Medical Genetics, Policlinico Sant'Orsola\u2010Malpighi University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Gelmini","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Obstetric and Paediatric Department Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S Maria Nuova Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Albertini","sequence":"additional","affiliation":[{"name":"Department of Orthodontics University of Ferrara Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Albertini","sequence":"additional","affiliation":[{"name":"Department of Dermatology Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S. 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