{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:30:19Z","timestamp":1791973819893,"version":"4.4.0"},"reference-count":26,"publisher":"Cold Spring Harbor Laboratory","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:p>Gardner syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), primarily characterized by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. We describe a 2-yr-old boy presenting with a 2-cm soft tissue mass of the forehead. Pathologic evaluation revealed a nuchal-type\/Gardner-associated fibroma. Sequencing of the <jats:italic>APC<\/jats:italic> gene revealed a pathologic variant c.4666dupA. Parental sequencing of both blood and buccal tissue supported the de novo occurrence of this pathologic variant. Further imaging revealed a number of additional lesions including a large lumbar paraspinal desmoid, a 1-cm palpable lesion posterior to the left knee, firm lesions on bilateral heels, and multiple subdermal lesions. Colonoscopy was negative. This case illustrates a genetic variant of Gardner syndrome resulting in an aggressive early childhood phenotype and highlights the need for an individualized approach to treatment.<\/jats:p>","DOI":"10.1101\/mcs.a003640","type":"journal-article","created":{"date-parts":[[2019,1,29]],"date-time":"2019-01-29T23:05:13Z","timestamp":1548803113000},"page":"a003640","source":"Crossref","is-referenced-by-count":9,"title":["Identification of aggressive Gardner syndrome phenotype associated with a de novo <i>APC<\/i> variant, c.4666dup"],"prefix":"10.1101","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0145-5942","authenticated-orcid":false,"given":"Patrick","family":"Kiessling","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8678-1252","authenticated-orcid":false,"given":"Eric","family":"Dowling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yajue","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai Lan","family":"Ho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karthik","family":"Balakrishnan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brenda J.","family":"Weigel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"W. 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