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Gross examination revealed deformed kidneys with 28 brown and solid lesions, size variable between 0.1 and 6\u2009cm, histologically corresponding to renal cell carcinomas, chromophobe type. Genetic test was required that showed a c.573delGAinsT frameshift mutation in heterozigosity at the folliculin gene, consistent with BHD diagnosis.<\/jats:p>","DOI":"10.1136\/bcr-2017-221022","type":"journal-article","created":{"date-parts":[[2017,10,24]],"date-time":"2017-10-24T05:30:18Z","timestamp":1508823018000},"page":"bcr-2017-221022","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Birt-Hogg-Dub\u00e9 syndrome: awareness is important!"],"prefix":"10.1136","volume":"2017","author":[{"given":"Rui Caetano","family":"Oliveira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edgar","family":"Tavares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00edtor","family":"Sousa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnaldo","family":"Figueiredo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2017,10,23]]},"reference":[{"key":"2025042712563052000_2017.oct21_1.bcr-2017-221022.1","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdw328"},{"key":"2025042712563052000_2017.oct21_1.bcr-2017-221022.2","unstructured":"Moch H , Ulbright TM , Reuter VE . WHO classification of tumours ofthe urinary system and male genital organs. 4th ed. 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GeneReview Birt-Hogg-Dub\u00e9 Syndrome. Seattle: University of washington, 2014. 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