{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T19:00:15Z","timestamp":1792695615038,"version":"4.5.0"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,12,13]],"date-time":"2022-12-13T00:00:00Z","timestamp":1670889600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006418","name":"Brown University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006418","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report a series of four unrelated adults with Smith\u2013Magenis syndrome (SMS) and concomitant features of Birt\u2013Hogg\u2013Dub\u00e9 (BHD) syndrome based upon haploinsufficiency for\n                    <jats:italic>FLCN<\/jats:italic>\n                    and characteristic renal cell carcinomas and\/or evidence of cutaneous fibrofolliculomas. Three of the cases constitute the first known association of histopathologically verified characteristic BHD\u2010associated renal tumors in adults with SMS; the fourth was identified to have histologically confirmed skin fibrofolliculomas. Molecular analysis documented second\u2010hit\n                    <jats:italic>FLCN<\/jats:italic>\n                    mutations in two of the three cases with confirmed BHD renal pathology. These cases suggest the need to expand management recommendations for SMS to include kidney cancer surveillance starting at 20\u2009years of age, as per the screening recommendations for BHD syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63049","type":"journal-article","created":{"date-parts":[[2022,12,13]],"date-time":"2022-12-13T22:55:40Z","timestamp":1670972140000},"page":"490-497","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["A diagnosis of\n                    <scp>Birt\u2013Hogg\u2013Dub\u00e9<\/scp>\n                    syndrome in individuals with\n                    <scp>Smith\u2013Magenis<\/scp>\n                    syndrome: Recommendation for cancer screening"],"prefix":"10.1002","volume":"191","author":[{"given":"Cathy D.","family":"Vocke","sequence":"first","affiliation":[{"name":"Urologic Oncology Branch, Center for Cancer Research National Cancer Institute, NIH  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6742-7223","authenticated-orcid":false,"given":"Leah R.","family":"Fleming","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"},{"name":"Department of Genetics Saint Luke's Genetics and Metabolic Clinic  Boise Idaho USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna M.","family":"Piskorski","sequence":"additional","affiliation":[{"name":"Department of Pathology Warren Alpert Medical School of Brown University  Providence Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Amin","sequence":"additional","affiliation":[{"name":"Department of Pathology Warren Alpert Medical School of Brown University  Providence Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chanika","family":"Phornphutkul","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics Warren Alpert Medical School of Brown University  Providence Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"de la Monte","sequence":"additional","affiliation":[{"name":"Department of Pathology Warren Alpert Medical School of Brown University  Providence Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Vilboux","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"},{"name":"Medical Genetics Branch National Human Genome Research Institute, NIH  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Folami","family":"Duncan","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"},{"name":"Department of Pediatric Emergency Medicine Johns Hopkins Children's Center  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan","family":"Pellegrino","sequence":"additional","affiliation":[{"name":"Medical Genetics Upstate Medical University  Syracuse New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bonnie","family":"Braddock","sequence":"additional","affiliation":[{"name":"Medical Genetics Upstate Medical University  Syracuse New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay A.","family":"Middelton","sequence":"additional","affiliation":[{"name":"Urologic Oncology Branch, Center for Cancer Research National Cancer Institute, NIH  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura S.","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Urologic Oncology Branch, Center for Cancer Research National Cancer Institute, NIH  Bethesda Maryland USA"},{"name":"Basic Science Program Frederick National Laboratory for Cancer Research  Frederick Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J.","family":"Merino","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology Center for Cancer Research National Cancer Institute, NIH  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward W.","family":"Cowen","sequence":"additional","affiliation":[{"name":"Dermatology Branch National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy J.","family":"Introne","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. Marston","family":"Linehan","sequence":"additional","affiliation":[{"name":"Urologic Oncology Branch, Center for Cancer Research National Cancer Institute, NIH  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0729-9063","authenticated-orcid":false,"given":"Ann C. M.","family":"Smith","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Human Genome Research Institute, NIH  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,13]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/658767"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20872"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0045155"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.09.005"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2014.07.014"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00815.x"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5202009"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62159"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e3280895dba"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(05)66524-X"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.022814"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(09)70188-3"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOU.0000000000000094"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/s1535-6108(02)00104-6"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ju.0000154629.45832.30"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200212000-00002"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1098-2264(199701)18:1<50::aid-gcc6>3.0.co;2-0"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/430842"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/323744"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrurol.2015.206"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2017.09.044"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2013.50.8192"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19980328)81:2<179::aid-ajmg10>3.0.co;2-e"},{"key":"e_1_2_9_25_1","unstructured":"Smith A. C. M. Fleming L. R. Piskorski A. M. Amin A. Phornphutkul C. de laMonte S. Stope E. Introne W. Viloux T. Duncan F. Pellegrino J. Braddock B. Middleton L. A. Vocke C. Linehan W. M.(2014).Deletion of 17p11.2 encompassesFLCNwith increased risk of Birt\u2013Hogg\u2013Dube in Smith\u2013Magenis syndrome: Recommendation for cancer screening. [Abstract #2603]. Presented at the 64th annual meeting of the American Society of Human Genetics San Diego CA United States. 2014 October 18\u201322.https:\/\/www.ashg.org\/meetings\/future-past\/abstract-archive\/#abstract-copyright."},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240303"},{"key":"e_1_2_9_27_1","unstructured":"Smith A. C. M. Pletcher B. A. Spilka J. Blancato J. &Meck J.(2006).First report of two siblings with SMS due to maternal mosaicism. (Poster 829). [Abstract] Presented at the Annual Meeting of The American Society of Human Genetics New Orleans Louisiana.2006 October.https:\/\/www.ashg.org\/meetings\/future\u2010past\/abstract\u2010archive\/#abstract\u2010copyright(pg 1849)."},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-013-9657-4"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054304"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-142"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63049","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63049","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63049","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T07:44:07Z","timestamp":1692431047000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63049"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,13]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["10.1002\/ajmg.a.63049"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63049","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,13]]},"assertion":[{"value":"2022-09-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}