{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T16:24:21Z","timestamp":1761582261868,"version":"3.37.3"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T00:00:00Z","timestamp":1677456000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,5]]},"abstract":"<jats:p>Few cases of isolated (nonsyndromic, nonendocrinopathy) familial acanthosis nigricans (FAN) have been described, and most have not included genetic testing. We present a three-generation family with isolated FAN, whose genetic study revealed a heterozygous FGFR3 gene variant [NM_0001425: c.2302G&amp;gt;T; p.(Glu768Ter); E768X]. We propose genetic mechanisms that could explain the pro-mitogenic effect on the skin without bone involvement and the spectrum of clinical manifestations associated with germline FGFR3 mutations.<\/jats:p>","DOI":"10.1093\/ced\/llad078","type":"journal-article","created":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T18:40:29Z","timestamp":1677523229000},"page":"729-732","source":"Crossref","is-referenced-by-count":1,"title":["Familial isolated acanthosis nigricans as a result of a recurrent <i>FGFR3<\/i> truncating mutation"],"prefix":"10.1093","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5821-9780","authenticated-orcid":false,"given":"David","family":"Pesqu\u00e9","sequence":"first","affiliation":[{"name":"Department of Dermatology, Hospital del Mar-Institut Mar d\u2019Investigacions M\u00e8diques (IMIM), Universitat Aut\u00f2noma de Barcelona (UAB) , Barcelona , 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