{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:41:35Z","timestamp":1791013295337,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,10,23]],"date-time":"2013-10-23T00:00:00Z","timestamp":1382486400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:p>\n                    Proteus syndrome is caused by an activating\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AKT1<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutation (c.\n                    <jats:styled-content style=\"fixed-case\">49G<\/jats:styled-content>\n                    &gt;A, p.\n                    <jats:styled-content style=\"fixed-case\">Glu17Lys<\/jats:styled-content>\n                    ). Many variable features are possible in this mosaic disorder, including: (i) disproportionate, asymmetric, and distorting overgrowth; (ii) bone abnormalities different from those observed in other disorders; (iii) a characteristic cerebriform connective tissue nevus made up of highly collagenized connective tissue; (iv) epidermal nevi in early life, consisting of acanthosis and hyperkeratosis; (v) vascular malformations of the capillary, venous, or lymphatic types; (vi) dysregulated adipose tissue including lipomas, lipohypoplasia, fatty overgrowth, and localized fat deposits; (vii) other unusual features, including bullous lung alterations; specific neoplasms; a facial phenotype associated with intellectual disability and\/or seizures, and\/or brain malformations; and (viii) deep vein thrombosis, resulting in premature death. Concluding remarks address diagnostic criteria, natural history, management, psychosocial issues, and differential diagnosis.\n                  <\/jats:p>","DOI":"10.1111\/cge.12266","type":"journal-article","created":{"date-parts":[[2013,8,29]],"date-time":"2013-08-29T11:44:35Z","timestamp":1377776675000},"page":"111-119","source":"Crossref","is-referenced-by-count":122,"title":["Proteus syndrome review: molecular, clinical, and pathologic features"],"prefix":"10.1111","volume":"85","author":[{"suffix":"Jr.","given":"M. Michael","family":"Cohen","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Dalhousie University Halifax Nova Scotia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,10,23]]},"reference":[{"key":"e_1_2_14_2_1","unstructured":"Tatton\u2010BrownK. Overgrowth syndromes\u2014a mechanistic approach. Annual David W. Smith Workshop on Malformations and Morphogenesis September 9\u201311 Lake Arrowhead Ca.2011:6"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1104017"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471227579"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30063"},{"key":"e_1_2_14_6_1","first-page":"1","volume-title":"Online GeneReviews","author":"Biesecker LG","year":"2013"},{"key":"e_1_2_14_7_1","first-page":"187","article-title":"The elephant man did not have neurofibromatosis","volume":"6","author":"Cohen MM","year":"1986","journal-title":"Proc Greenwood Genet Ctr"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290407"},{"key":"e_1_2_14_9_1","first-page":"260","article-title":"Understanding Proteus syndrome, unmasking the Elephant Man, and stemming elephant fever","volume":"1","author":"Cohen MM","year":"1988","journal-title":"Neurofibromatosis"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)07110-0"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)05412-5"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291899"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3424"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32417"},{"issue":"5","key":"e_1_2_14_15_1","first-page":"291","article-title":"A newly recognized hamartomatous syndrome","volume":"15","author":"Cohen MM","year":"1979","journal-title":"Birth Defects"},{"key":"e_1_2_14_16_1","first-page":"11","article-title":"Putting a foot in one's mouth or putting a foot down: nonspecificity vs. specificity of the connective tissue nevus in Proteus syndrome","volume":"14","author":"Cohen MM","year":"1995","journal-title":"Proc Greenwood Genet Ctr"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470514"},{"key":"e_1_2_14_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.140.8.947"},{"key":"e_1_2_14_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31333"},{"key":"e_1_2_14_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990611)84:5<389::AID-AJMG1>3.0.CO;2-O"},{"key":"e_1_2_14_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560326"},{"key":"e_1_2_14_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201638"},{"key":"e_1_2_14_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30327"},{"key":"e_1_2_14_24_1","doi-asserted-by":"publisher","DOI":"10.1148\/rg.244035726"},{"key":"e_1_2_14_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33926"},{"key":"e_1_2_14_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<311::AID-AJMG14>3.0.CO;2-U"},{"key":"e_1_2_14_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570117"},{"key":"e_1_2_14_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000731)93:3<234::AID-AJMG15>3.0.CO;2-9"},{"issue":"7","key":"e_1_2_14_29_1","first-page":"7","article-title":"Pulmonary embolism. Proteus Syndrome Foundation","volume":"7","author":"Biesecker LG","year":"2000","journal-title":"Newsletter"},{"key":"e_1_2_14_30_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580509.x"},{"key":"e_1_2_14_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1311"},{"key":"e_1_2_14_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000619)92:5<350::AID-AJMG11>3.0.CO;2-O"},{"key":"e_1_2_14_33_1","first-page":"437","volume-title":"Management of Genetic Syndromes","author":"Biesecker LG","year":"2005"},{"key":"e_1_2_14_34_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.17.2240"},{"key":"e_1_2_14_35_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1009416126631"},{"key":"e_1_2_14_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)07109-4"},{"key":"e_1_2_14_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20474"},{"key":"e_1_2_14_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30328"},{"key":"e_1_2_14_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32023"},{"key":"e_1_2_14_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.006"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12266","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12266","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T12:15:42Z","timestamp":1696335342000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12266"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,23]]},"references-count":39,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["10.1111\/cge.12266"],"URL":"https:\/\/doi.org\/10.1111\/cge.12266","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,23]]}}}