{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T01:17:51Z","timestamp":1768439871665,"version":"3.49.0"},"reference-count":105,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2017,1,21]],"date-time":"2017-01-21T00:00:00Z","timestamp":1484956800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Head and Neck Pathol"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1007\/s12105-017-0778-1","type":"journal-article","created":{"date-parts":[[2017,1,21]],"date-time":"2017-01-21T01:39:19Z","timestamp":1484962759000},"page":"364-376","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region"],"prefix":"10.1007","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5608-6243","authenticated-orcid":false,"given":"Robert A.","family":"Kennedy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Selvam","family":"Thavaraj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvador","family":"Diaz-Cano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,1,21]]},"reference":[{"issue":"21","key":"778_CR1","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1093\/jnci\/djt277","volume":"105","author":"R Pilarski","year":"2013","unstructured":"Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013;105(21):1607\u201316.","journal-title":"J Natl Cancer Inst"},{"issue":"3","key":"778_CR2","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/sj.ejhg.5200289","volume":"7","author":"MR Nelen","year":"1999","unstructured":"Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R, et al. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet. 1999;7(3):267\u201373.","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"778_CR3","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/ng0597-64","volume":"16","author":"D Liaw","year":"1997","unstructured":"Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z, et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet. 1997;16(1):64\u20137.","journal-title":"Nat Genet"},{"key":"778_CR4","volume-title":"Dermatopathology","author":"NK Brinster","year":"2010","unstructured":"Brinster NK. Dermatopathology. St. Louis, USA: Saunders\/Elsevier; 2010."},{"issue":"6","key":"778_CR5","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1111\/j.1365-2133.1979.tb08070.x","volume":"100","author":"MH Brownstein","year":"1979","unstructured":"Brownstein MH, Mehregan AH, Bikowski JB, Lupulescu A, Patterson JC. The dermatopathology of Cowden\u2019s syndrome. Br J Dermatol. 1979;100(6):667\u201373.","journal-title":"Br J Dermatol"},{"issue":"1","key":"778_CR6","doi-asserted-by":"crossref","first-page":"8","DOI":"10.3315\/jdcr.2011.1063","volume":"5","author":"A Masmoudi","year":"2011","unstructured":"Masmoudi A, Chermi ZM, Marrekchi S, Raida BS, Boudaya S, Mseddi M, et al. Cowden syndrome. J Dermatol Case Rep. 2011;5(1):8\u201313.","journal-title":"J Dermatol Case Rep"},{"issue":"3","key":"778_CR7","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1111\/j.1399-0004.1986.tb00816.x","volume":"29","author":"TM Starink","year":"1986","unstructured":"Starink TM, van der Veen JP, Arwert F, de Waal LP, de Lange GG, Gille JJ, et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet. 1986;29(3):222\u201333.","journal-title":"Clin Genet"},{"key":"778_CR8","first-page":"315109","volume":"2013","author":"P Chippagiri","year":"2013","unstructured":"Chippagiri P, Banavar Ravi S, Patwa N. Multiple hamartoma syndrome with characteristic oral and cutaneous manifestations. Case Rep Dent. 2013;2013:315109.","journal-title":"Case Rep Dent"},{"issue":"3","key":"778_CR9","doi-asserted-by":"crossref","first-page":"306","DOI":"10.5021\/ad.2015.27.3.306","volume":"27","author":"JE Seol","year":"2015","unstructured":"Seol JE, Park IH, Lee W, Kim H, Seo JK, Oh SH. Cowden syndrome with a novel germline PTEN mutation and an unusual clinical course. Ann Dermatol. 2015;27(3):306\u20139.","journal-title":"Ann Dermatol"},{"issue":"5","key":"778_CR10","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1097\/PAS.0b013e31824dd86c","volume":"36","author":"KC Kurek","year":"2012","unstructured":"Kurek KC, Howard E, Tennant LB, Upton J, Alomari AI, Burrows PE, et al. PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes. Am J Surg Pathol. 2012;36(5):671\u201387.","journal-title":"Am J Surg Pathol"},{"issue":"12","key":"778_CR11","doi-asserted-by":"crossref","first-page":"E2063","DOI":"10.1210\/jc.2011-1616","volume":"96","author":"J Ngeow","year":"2011","unstructured":"Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C. Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. J Clin Endocrinol Metab. 2011;96(12):E2063\u2013E71.","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"778_CR12","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1136\/jmg.26.1.28","volume":"26","author":"JR Sampson","year":"1989","unstructured":"Sampson JR, Scahill SJ, Stephenson JB, Mann L, Connor JM. Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet. 1989;26(1):28\u201331.","journal-title":"J Med Genet"},{"issue":"9114","key":"778_CR13","doi-asserted-by":"crossref","first-page":"1490","DOI":"10.1016\/S0140-6736(05)78872-3","volume":"351","author":"FJ O\u2019Callaghan","year":"1998","unstructured":"O\u2019Callaghan FJ, Shiell AW, Osborne JP, Martyn CN. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. The Lancet. 1998;351(9114):1490.","journal-title":"The Lancet"},{"issue":"7","key":"778_CR14","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1016\/0092-8674(93)90618-Z","volume":"75","author":"European Chromosome 16 Tuberous Sclerosis C","year":"1993","unstructured":"European Chromosome 16 Tuberous Sclerosis C. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell. 1993;75(7):1305\u201315.","journal-title":"Cell"},{"issue":"5327","key":"778_CR15","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1126\/science.277.5327.805","volume":"277","author":"M Slegtenhorst van","year":"1997","unstructured":"van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997;277(5327):805\u20138.","journal-title":"Science"},{"issue":"2","key":"778_CR16","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1097\/GIM.0b013e31803068c7","volume":"9","author":"KS Au","year":"2007","unstructured":"Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, et al. Genotype\/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9(2):88\u2013100.","journal-title":"Genet Med"},{"issue":"6","key":"778_CR17","doi-asserted-by":"crossref","first-page":"1632","DOI":"10.1086\/302412","volume":"64","author":"S Verhoef","year":"1999","unstructured":"Verhoef S, Bakker L, Tempelaars AM, Hesseling-Janssen AL, Mazurczak T, Jozwiak S, et al. High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet. 1999;64(6):1632\u20137.","journal-title":"Am J Hum Genet"},{"issue":"9","key":"778_CR18","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1038\/ncb839","volume":"4","author":"K Inoki","year":"2002","unstructured":"Inoki K, Li Y, Zhu T, Wu J, Guan KL. TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling. Nat Cell Biol. 2002;4(9):648\u201357.","journal-title":"Nat Cell Biol"},{"issue":"10","key":"778_CR19","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1001\/jamadermatol.2014.938","volume":"150","author":"JM Teng","year":"2014","unstructured":"Teng JM, Cowen EW, Wataya-Kaneda M, Gosnell ES, Witman PM, Hebert AA, et al. Dermatologic and dental aspects of the 2012 international tuberous sclerosis complex consensus statements. JAMA Dermatol. 2014;150(10):1095\u2013101.","journal-title":"JAMA Dermatol"},{"issue":"5","key":"778_CR20","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1016\/j.jaad.2006.11.019","volume":"56","author":"JD Sparling","year":"2007","unstructured":"Sparling JD, Hong CH, Brahim JS, Moss J, Darling TN. Oral findings in 58 adults with tuberous sclerosis complex. J Am Acad Dermatol. 2007;56(5):786\u201390.","journal-title":"J Am Acad Dermatol"},{"issue":"3","key":"778_CR21","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/S1079-2104(99)70219-2","volume":"87","author":"DD Damm","year":"1999","unstructured":"Damm DD, Tomich CE, White DK, Drummond JF. Intraosseous fibrous lesions of the jaws: a manifestation of tuberous sclerosis. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1999;87(3):334\u201340.","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"issue":"2","key":"778_CR22","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1111\/j.1528-1167.2008.01788.x","volume":"50","author":"DA Muzykewicz","year":"2009","unstructured":"Muzykewicz DA, Costello DJ, Halpern EF, Thiele EA. Infantile spasms in tuberous sclerosis complex: prognostic utility of EEG. Epilepsia. 2009;50(2):290\u20136.","journal-title":"Epilepsia"},{"issue":"6","key":"778_CR23","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1136\/jmg.33.6.480","volume":"33","author":"JA Cook","year":"1996","unstructured":"Cook JA, Oliver K, Mueller RF, Sampson J. A cross sectional study of renal involvement in tuberous sclerosis. J Med Genet. 1996;33(6):480\u20134.","journal-title":"J Med Genet"},{"issue":"8","key":"778_CR24","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1016\/S0025-6196(12)61196-3","volume":"66","author":"CW Shepherd","year":"1991","unstructured":"Shepherd CW, Gomez MR, Lie JT, Crowson CS. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc. 1991;66(8):792\u20136.","journal-title":"Mayo Clin Proc"},{"issue":"3","key":"778_CR25","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M","volume":"69","author":"VE Kimonis","year":"1997","unstructured":"Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. 1997;69(3):299\u2013308.","journal-title":"Am J Med Genet"},{"issue":"9","key":"778_CR26","doi-asserted-by":"crossref","first-page":"2091","DOI":"10.1002\/ajmg.a.34128","volume":"155A","author":"AF Bree","year":"2011","unstructured":"Bree AF, Shah MR, Group BC. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A. 2011;155A(9):2091\u20137.","journal-title":"Am J Med Genet A"},{"issue":"6","key":"778_CR27","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1136\/jmg.30.6.460","volume":"30","author":"DG Evans","year":"1993","unstructured":"Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet. 1993;30(6):460\u20134.","journal-title":"J Med Genet"},{"issue":"1","key":"778_CR28","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1034\/j.1399-0004.1999.550106.x","volume":"55","author":"L Lo Muzio","year":"1999","unstructured":"Lo Muzio L, Nocini PF, Savoia A, Consolo U, Procaccini M, Zelante L, et al. Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Clin Genet. 1999;55(1):34\u201340.","journal-title":"Clin Genet"},{"issue":"5268","key":"778_CR29","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1126\/science.272.5268.1668","volume":"272","author":"RL Johnson","year":"1996","unstructured":"Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. 1996;272(5268):1668\u201371.","journal-title":"Science"},{"issue":"6605","key":"778_CR30","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1038\/384129a0","volume":"384","author":"DM Stone","year":"1996","unstructured":"Stone DM, Hynes M, Armanini M, Swanson TA, Gu Q, Johnson RL, et al. The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. Nature. 1996;384(6605):129\u201334.","journal-title":"Nature"},{"issue":"5","key":"778_CR31","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1136\/jmg.2007.055343","volume":"45","author":"Z Fan","year":"2008","unstructured":"Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, et al. A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. J Med Genet. 2008;45(5):303\u20138.","journal-title":"J Med Genet"},{"issue":"4","key":"778_CR32","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1007\/s10689-013-9623-1","volume":"12","author":"K Fujii","year":"2013","unstructured":"Fujii K, Ohashi H, Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, et al. Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. Fam Cancer. 2013;12(4):611\u20134.","journal-title":"Fam Cancer"},{"issue":"3","key":"778_CR33","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1007\/BF02011059","volume":"21","author":"TE Herman","year":"1991","unstructured":"Herman TE, Siegel MJ, McAlister WH. Cardiac tumor in Gorlin syndrome. Nevoid basal cell carcinoma syndrome. Pediatr Radiol. 1991;21(3):234\u20135.","journal-title":"Pediatr Radiol"},{"issue":"3","key":"778_CR34","doi-asserted-by":"crossref","first-page":"441","DOI":"10.3109\/15513819209023323","volume":"12","author":"S DiSanto","year":"1992","unstructured":"DiSanto S, Abt AB, Boal DK, Krummel TM. Fetal rhabdomyoma and nevoid basal cell carcinoma syndrome. Pediatr Pathol. 1992;12(3):441\u20137.","journal-title":"Pediatr Pathol"},{"key":"778_CR35","volume-title":"Biopsy pathology of the oral tissues","author":"EW Odell","year":"1997","unstructured":"Odell EW, Morgan PR. Biopsy pathology of the oral tissues. London: Chapman & Hall Medical; 1997."},{"issue":"10","key":"778_CR36","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1001\/archderm.135.10.1227","volume":"135","author":"L Requena","year":"1999","unstructured":"Requena L, Farina MC, Robledo M, Sangueza OP, Sanchez E, Villanueva A, et al. Multiple hereditary infundibulocystic basal cell carcinomas: a genodermatosis different from nevoid basal cell carcinoma syndrome. Arch Dermatol. 1999;135(10):1227\u201335.","journal-title":"Arch Dermatol"},{"issue":"3","key":"778_CR37","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1001\/jamadermatol.2015.4233","volume":"152","author":"JM Schulman","year":"2016","unstructured":"Schulman JM, Oh DH, Sanborn JZ, Pincus L, McCalmont TH, Cho RJ. Multiple Hereditary Infundibulocystic Basal Cell Carcinoma syndrome associated with a Germline SUFU mutation. JAMA Dermatol. 2016;152(3):323\u20137.","journal-title":"JAMA Dermatol"},{"issue":"7","key":"778_CR38","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1002\/ajmg.a.32944","volume":"149A","author":"L Pastorino","year":"2009","unstructured":"Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, et al. Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am J Med Genet A. 2009;149A(7):1539\u201343.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"778_CR39","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1007\/s10689-012-9548-0","volume":"11","author":"C Kijima","year":"2012","unstructured":"Kijima C, Miyashita T, Suzuki M, Oka H, Fujii K. Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation. Fam Cancer. 2012;11(4):565\u201370.","journal-title":"Fam Cancer"},{"issue":"36","key":"778_CR40","doi-asserted-by":"crossref","first-page":"4155","DOI":"10.1200\/JCO.2014.58.2569","volume":"32","author":"MJ Smith","year":"2014","unstructured":"Smith MJ, Beetz C, Williams SG, Bhaskar SS, O\u2019Sullivan J, Anderson B, et al. Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. J Clin Oncol. 2014;32(36):4155\u201361.","journal-title":"J Clin Oncol"},{"issue":"2","key":"778_CR41","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/76006","volume":"25","author":"GR Bignell","year":"2000","unstructured":"Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, et al. Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet. 2000;25(2):160\u20135.","journal-title":"Nat Genet"},{"key":"778_CR42","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1038\/nature01811","volume":"424","author":"TR Brummelkamp","year":"2003","unstructured":"Brummelkamp TR, Nijman SM, Dirac AM, Bernards R. Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB. Nature. 2003;424:797\u2013801.","journal-title":"Nature"},{"issue":"5","key":"778_CR43","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1136\/jmg.2007.056127","volume":"45","author":"S Saggar","year":"2008","unstructured":"Saggar S, Chernoff KA, Lodha S, Horev L, Kohl S, Honjo RS, et al. CYLD mutations in familial skin appendage tumours. J Med Genet. 2008;45(5):298\u2013302.","journal-title":"J Med Genet"},{"issue":"2","key":"778_CR44","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1046\/j.1440-0960.2003.00663.x","volume":"44","author":"H Saunders","year":"2003","unstructured":"Saunders H, Tucker P, Saurine T, Watkins F. Pedigree of multiple benign adnexal tumours of Brooke\u2013Spiegler type. Australas J Dermatol. 2003;44(2):144\u20138.","journal-title":"Australas J Dermatol"},{"issue":"2","key":"778_CR45","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/s12105-016-0705-x","volume":"10","author":"DV Kazakov","year":"2016","unstructured":"Kazakov DV. Brooke\u2013Spiegler syndrome and Phenotypic variants: an update. Head Neck Pathol. 2016;10(2):125\u201330.","journal-title":"Head Neck Pathol"},{"issue":"8","key":"778_CR46","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1017\/S0022215100145190","volume":"113","author":"M Jungehulsing","year":"1999","unstructured":"Jungehulsing M, Wagner M, Damm M. Turban tumour with involvement of the parotid gland. J Laryngol Otol. 1999;113(8):779\u201383.","journal-title":"J Laryngol Otol"},{"key":"778_CR47","volume-title":"Diagnostic Histopathology of Tumors","author":"CDM Fletcher","year":"2013","unstructured":"Fletcher CDM. Diagnostic Histopathology of Tumors. 4th ed. Philadelphia: Saunders\/Elsevier; 2013.","edition":"4th ed"},{"issue":"2","key":"778_CR48","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S1535-6108(02)00104-6","volume":"2","author":"ML Nickerson","year":"2002","unstructured":"Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt\u2013Hogg\u2013Dube syndrome. Cancer Cell. 2002;2(2):157\u201364.","journal-title":"Cancer Cell"},{"key":"778_CR49","volume-title":"Neoplasms with sebaceous differentiation","author":"C Steffen","year":"1994","unstructured":"Steffen C, Ackerman AB. Neoplasms with sebaceous differentiation. Philadelphia: Lea & Febiger; 1994."},{"issue":"6","key":"778_CR50","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/jmg.2007.054304","volume":"45","author":"JR Toro","year":"2008","unstructured":"Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, et al. BHD mutations, clinical and molecular genetic investigations of Birt\u2013Hogg\u2013Dube syndrome: a new series of 50 families and a review of published reports. J Med Genet. 2008;45(6):321\u201331.","journal-title":"J Med Genet"},{"issue":"10","key":"778_CR51","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1164\/rccm.200610-1483OC","volume":"175","author":"JR Toro","year":"2007","unstructured":"Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt\u2013Hogg\u2013Dube syndrome. Am J Respir Crit Care Med. 2007;175(10):1044\u201353.","journal-title":"Am J Respir Crit Care Med"},{"issue":"12","key":"778_CR52","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1097\/00000478-200212000-00002","volume":"26","author":"CP Pavlovich","year":"2002","unstructured":"Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, et al. Renal tumors in the Birt\u2013Hogg\u2013Dube syndrome. Am J Surg Pathol. 2002;26(12):1542\u201352.","journal-title":"Am J Surg Pathol"},{"issue":"1","key":"778_CR53","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/0190-9622(95)90017-9","volume":"33","author":"RA Schwartz","year":"1995","unstructured":"Schwartz RA, Torre DP. The Muir\u2013Torre syndrome: a 25-year retrospect. J Am Acad Dermatol. 1995;33(1):90\u2013104.","journal-title":"J Am Acad Dermatol"},{"issue":"12","key":"778_CR54","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1054\/bjoc.2000.1520","volume":"83","author":"MG Dunlop","year":"2000","unstructured":"Dunlop MG, Farrington SM, Nicholl I, Aaltonen L, Petersen G, Porteous M, et al. Population carrier frequency of hMSH2 and hMLH1 mutations. Br J Cancer. 2000;83(12):1643\u20135.","journal-title":"Br J Cancer"},{"issue":"7","key":"778_CR55","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1034\/j.1600-0560.2002.290705.x","volume":"29","author":"P Machin","year":"2002","unstructured":"Machin P, Catasus L, Pons C, Mu\u00f1oz J, Conde-Zurita JM, Balma\u00f1a J, et al. Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir\u2013Torre syndrome. J Cutan Pathol. 2002;29(7):415\u201320.","journal-title":"J Cutan Pathol"},{"issue":"6","key":"778_CR56","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1097\/DAD.0b013e3182446fe2","volume":"34","author":"D Kacerovska","year":"2012","unstructured":"Kacerovska D, Cerna K, Martinek P, Grossmann P, Michal M, Ricar J, et al. MSH6 mutation in a family affected by Muir\u2013Torre syndrome. Am J Dermatopathol. 2012;34(6):648\u201352.","journal-title":"Am J Dermatopathol"},{"issue":"6","key":"778_CR57","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1097\/PAS.0b013e31815b0cc2","volume":"32","author":"RS Singh","year":"2008","unstructured":"Singh RS, Grayson W, Redston M, Diwan AH, Warneke CL, McKee PH, et al. Site and tumor type predicts DNA mismatch repair status in cutaneous sebaceous neoplasia. Am J Surg Pathol. 2008;32(6):936\u201342.","journal-title":"Am J Surg Pathol"},{"issue":"1","key":"778_CR58","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1111\/j.1365-2559.2009.03454.x","volume":"56","author":"SC Shalin","year":"2010","unstructured":"Shalin SC, Lyle S, Calonje E, Lazar AJ. Sebaceous neoplasia and the Muir\u2013Torre syndrome: important connections with clinical implications. Histopathology. 2010;56(1):133\u201347.","journal-title":"Histopathology"},{"issue":"3","key":"778_CR59","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1097\/IOP.0b013e31816d925f","volume":"24","author":"A Song","year":"2008","unstructured":"Song A, Carter KD, Syed NA, Song J, Nerad JA. Sebaceous cell carcinoma of the ocular adnexa: clinical presentations, histopathology, and outcomes. Ophthal Plast Reconstr Surg. 2008;24(3):194\u2013200.","journal-title":"Ophthal Plast Reconstr Surg"},{"issue":"5","key":"778_CR60","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1016\/S0002-9343(05)80013-0","volume":"90","author":"PR Cohen","year":"1991","unstructured":"Cohen PR, Kohn SR, Kurzrock R. Association of sebaceous gland tumors and internal malignancy: the Muir\u2013Torre syndrome. Am J Med. 1991;90(5):606\u201313.","journal-title":"Am J Med"},{"issue":"2","key":"778_CR61","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1002\/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L","volume":"81","author":"M Aarnio","year":"1999","unstructured":"Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer. 1999;81(2):214\u20138.","journal-title":"Int J Cancer"},{"issue":"3","key":"778_CR62","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1007\/s12105-015-0670-9","volume":"10","author":"IV Neelakantan","year":"2016","unstructured":"Neelakantan IV, Di Palma S, Smith CE, McCoombe A. Parotid sebaceous carcinoma in patient with Muir Torre syndrome, caused by MSH2 mutation. Head Neck Pathol. 2016;10(3):354\u201361.","journal-title":"Head Neck Pathol"},{"issue":"11","key":"778_CR63","doi-asserted-by":"crossref","first-page":"e79639","DOI":"10.1371\/journal.pone.0079639","volume":"8","author":"A Tchekmedyian","year":"2013","unstructured":"Tchekmedyian A, Amos CI, Bale SJ, Zhu D, Arold S, Berrueta J, et al. Findings from the Peutz\u2013Jeghers syndrome registry of uruguay. PLoS ONE. 2013;8(11):e79639.","journal-title":"PLoS ONE"},{"key":"778_CR64","volume-title":"Pathology and genetics of tumours of the digestive system","author":"SR LA Hamilton","year":"2000","unstructured":"Hamilton SR LA. Pathology and genetics of tumours of the digestive system. Lyons: IARC Press; 2000."},{"issue":"6663","key":"778_CR65","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1038\/34432","volume":"391","author":"A Hemminki","year":"1998","unstructured":"Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, et al. A serine\/threonine kinase gene defective in Peutz\u2013Jeghers syndrome. Nature. 1998;391(6663):184\u20137.","journal-title":"Nature"},{"issue":"7629","key":"778_CR66","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1038\/nature20132","volume":"539","author":"F Kottakis","year":"2016","unstructured":"Kottakis F, Nicolay BN, Roumane A, Karnik R, Gu H, Nagle JM, et al. LKB1 loss links serine metabolism to DNA methylation and tumorigenesis. Nature. 2016;539(7629):390\u20135.","journal-title":"Nature"},{"issue":"2","key":"778_CR67","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1097\/00005176-200408000-00027","volume":"39","author":"R Hinds","year":"2004","unstructured":"Hinds R, Philp C, Hyer W, Fell JM. Complications of childhood Peutz\u2013Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr. 2004;39(2):219\u201320.","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"12","key":"778_CR68","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1136\/jmg.34.12.1007","volume":"34","author":"IP Tomlinson","year":"1997","unstructured":"Tomlinson IP, Houlston RS. Peutz\u2013Jeghers syndrome. J Med Genet. 1997;34(12):1007\u201311.","journal-title":"J Med Genet"},{"issue":"6","key":"778_CR69","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1053\/gast.2000.20228","volume":"119","author":"FM Giardiello","year":"2000","unstructured":"Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, et al. Very high risk of cancer in familial Peutz\u2013Jeghers syndrome. Gastroenterology. 2000;119(6):1447\u201353.","journal-title":"Gastroenterology"},{"issue":"10","key":"778_CR70","doi-asserted-by":"crossref","first-page":"3209","DOI":"10.1158\/1078-0432.CCR-06-0083","volume":"12","author":"N Hearle","year":"2006","unstructured":"Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, et al. Frequency and spectrum of cancers in the Peutz\u2013Jeghers syndrome. Clin Cancer Res. 2006;12(10):3209\u201315.","journal-title":"Clin Cancer Res"},{"issue":"7","key":"778_CR71","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1016\/j.dld.2012.12.018","volume":"45","author":"N Resta","year":"2013","unstructured":"Resta N, Pierannunzio D, Lenato GM, Stella A, Capocaccia R, Bagnulo R, et al. Cancer risk associated with STK11\/LKB1 germline mutations in Peutz\u2013Jeghers syndrome patients: results of an Italian multicenter study. Dig Liver Dis. 2013;45(7):606\u201311.","journal-title":"Dig Liver Dis"},{"issue":"11","key":"778_CR72","doi-asserted-by":"crossref","first-page":"896","DOI":"10.7326\/0003-4819-128-11-199806010-00004","volume":"128","author":"LA Boardman","year":"1998","unstructured":"Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ, et al. Increased risk for cancer in patients with the Peutz\u2013Jeghers syndrome. Ann Intern Med. 1998;128(11):896\u20139.","journal-title":"Ann Intern Med"},{"issue":"6","key":"778_CR73","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1097\/PAS.0b013e3180309e33","volume":"31","author":"TM Ulbright","year":"2007","unstructured":"Ulbright TM, Amin MB, Young RH. Intratubular large cell hyalinizing sertoli cell neoplasia of the testis: a report of 8 cases of a distinctive lesion of the Peutz\u2013Jeghers syndrome. Am J Surg Pathol. 2007;31(6):827\u201335.","journal-title":"Am J Surg Pathol"},{"issue":"5020","key":"778_CR74","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1126\/science.1651563","volume":"253","author":"I Nishisho","year":"1991","unstructured":"Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science. 1991;253(5020):665\u20139.","journal-title":"Science"},{"issue":"4","key":"778_CR75","first-page":"376","volume":"14","author":"EJ Gardner","year":"1962","unstructured":"Gardner EJ. Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts. Am J Hum Genet. 1962;14(4):376\u201390.","journal-title":"Am J Hum Genet"},{"issue":"5","key":"778_CR76","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1136\/gut.52.5.742","volume":"52","author":"S Bulow","year":"2003","unstructured":"Bulow S. Results of national registration of familial adenomatous polyposis. Gut. 2003;52(5):742\u20136.","journal-title":"Gut"},{"key":"778_CR77","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.molcel.2008.10.023","volume":"3","author":"Y Su","year":"2008","unstructured":"Su Y, Fu C, Ishikawa S, Stella A, Kojima M, Shitoh K, et al. APC is essential for targeting phosphorylated beta-catenin to the SCFbeta-TrCP ubiquitin ligase. Mol Cell. 2008;3:652\u201361.","journal-title":"Mol Cell"},{"issue":"6","key":"778_CR78","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1136\/jmg.32.6.458","volume":"32","author":"N Thakker","year":"1995","unstructured":"Thakker N, Davies R, Horner K, Armstrong J, Clancy T, Guy S, et al. The dental phenotype in familial adenomatous polyposis: diagnostic application of a weighted scoring system for changes on dental panoramic radiographs. J Med Genet. 1995;32(6):458\u201364.","journal-title":"J Med Genet"},{"issue":"11","key":"778_CR79","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1056\/NEJM198703123161104","volume":"316","author":"EI Traboulsi","year":"1987","unstructured":"Traboulsi EI, Krush AJ, Gardner EJ, Booker SV, Offerhaus GJ, Yardley JH, et al. Prevalence and importance of pigmented ocular fundus lesions in Gardner\u2019s syndrome. N Engl J Med. 1987;316(11):661\u20137.","journal-title":"N Engl J Med"},{"key":"778_CR80","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1056\/NEJM196012082632301","volume":"263","author":"RJ Gorlin","year":"1960","unstructured":"Gorlin RJ, Chaudhary AP. Multiple osteomatosis, fibromas, lipomas and fibrosarcomas of the skin and mesentery, epidermoid inclusion cysts of the skin, leiomyomas and multiple intestinal polyposis: a heritable disorder of connective tissue. N Engl J Med. 1960;263:1151\u20138.","journal-title":"N Engl J Med"},{"issue":"5","key":"778_CR81","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1097\/00000478-200105000-00012","volume":"25","author":"BM Wehrli","year":"2001","unstructured":"Wehrli BM, Weiss SW, Yandow S, Coffin CM. Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected Gardner syndrome and risk for fibromatosis. Am J Surg Pathol. 2001;25(5):645\u201351.","journal-title":"Am J Surg Pathol"},{"issue":"8595","key":"778_CR82","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1016\/S0140-6736(88)91962-9","volume":"1","author":"DG Jagelman","year":"1988","unstructured":"Jagelman DG, DeCosse JJ, Bussey HJ. Upper gastrointestinal cancer in familial adenomatous polyposis. The Lancet. 1988;1(8595):1149\u201351.","journal-title":"The Lancet"},{"issue":"5","key":"778_CR83","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1016\/S0022-3476(05)80297-5","volume":"119","author":"FM Giardiello","year":"1991","unstructured":"Giardiello FM, Offerhaus GJ, Krush AJ, Booker SV, Tersmette AC, Mulder JW, et al. Risk of hepatoblastoma in familial adenomatous polyposis. J Pediatr. 1991;119(5):766\u20138.","journal-title":"J Pediatr"},{"issue":"2","key":"778_CR84","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/s10689-015-9862-4","volume":"15","author":"N Casellas-Cabrera","year":"2016","unstructured":"Casellas-Cabrera N, Diaz-Algorri Y, Carlo-Chevere VJ, Gonzalez-Pons M, Rodriguez-Manon N, Perez-Mayoral J, et al. Risk of thyroid cancer among Caribbean Hispanic patients with familial adenomatous polyposis. Fam Cancer. 2016;15(2):267\u201374.","journal-title":"Fam Cancer"},{"issue":"13","key":"778_CR85","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1056\/NEJM199503303321302","volume":"332","author":"SR Hamilton","year":"1995","unstructured":"Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, et al. The molecular basis of Turcot\u2019s syndrome. N Engl J Med. 1995;332(13):839\u201347.","journal-title":"N Engl J Med"},{"issue":"7","key":"778_CR86","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1136\/jcp.49.7.611","volume":"49","author":"K Hizawa","year":"1996","unstructured":"Hizawa K, Iida M, Yao T, Aoyagi K, Oohata Y, Mibu R, et al. Association between thyroid cancer of cribriform variant and familial adenomatous polyposis. J Clin Pathol. 1996;49(7):611\u20133.","journal-title":"J Clin Pathol"},{"key":"778_CR87","volume-title":"Pathology and genetics of tumours of endocrine organs","author":"RA DeLellis","year":"2004","unstructured":"DeLellis RA. Pathology and genetics of tumours of endocrine organs. Lyon: IARC Press; 2004."},{"issue":"2","key":"778_CR88","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/hmg\/3.2.237","volume":"3","author":"C Eng","year":"1994","unstructured":"Eng C, Smith DP, Mulligan LM, Nagai MA, Healey CS, Ponder MA, et al. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet. 1994;3(2):237\u201341.","journal-title":"Hum Mol Genet"},{"issue":"2","key":"778_CR89","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/1097-0142(196808)22:2<293::AID-CNCR2820220206>3.0.CO;2-R","volume":"22","author":"RJ Gorlin","year":"1968","unstructured":"Gorlin RJ, Sedano HO, Vickers RA, Cervenka J. Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid\u2014a syndrome. Cancer. 1968;22(2):293\u20139.","journal-title":"Cancer"},{"issue":"23","key":"778_CR90","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1056\/NEJM197612022952304","volume":"295","author":"JA Carney","year":"1976","unstructured":"Carney JA, Go VL, Sizemore GW, Hayles AB. Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2B. N Engl J Med. 1976;295(23):1287\u201391.","journal-title":"N Engl J Med"},{"issue":"1","key":"778_CR91","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/0002-9394(81)90349-4","volume":"91","author":"FC Riley Jr","year":"1981","unstructured":"Riley FC Jr, Robertson DM. Ocular histopathology in multiple endocrine neoplasia type 2B. Am J Ophthalmol. 1981;91(1):57\u201364.","journal-title":"Am J Ophthalmol"},{"key":"778_CR92","volume-title":"Diagnostic surgical pathology of the head and neck","author":"DR Gnepp","year":"2009","unstructured":"Gnepp DR. Diagnostic surgical pathology of the head and neck. 2nd ed. Philadelphia: Saunders\/Elsevier; 2009.","edition":"2nd ed"},{"issue":"2 Pt 2","key":"778_CR93","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/S0190-9622(97)80390-8","volume":"37","author":"RM Pujol","year":"1997","unstructured":"Pujol RM, Matias-Guiu X, Miralles J, Colomer A, de Moragas JM. Multiple idiopathic mucosal neuromas: a minor form of multiple endocrine neoplasia type 2B or a new entity? J Am Acad Dermatol. 1997;37(2 Pt 2):349\u201352.","journal-title":"J Am Acad Dermatol"},{"issue":"1","key":"778_CR94","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/S0022-3468(96)90343-7","volume":"31","author":"MA Skinner","year":"1996","unstructured":"Skinner MA, DeBenedetti MK, Moley JF, Norton JA, Wells SA Jr. Medullary thyroid carcinoma in children with multiple endocrine neoplasia types 2A and 2B. J Pediatr Surg. 1996;31(1):177\u201381.","journal-title":"J Pediatr Surg"},{"issue":"4","key":"778_CR95","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1001\/archsurg.138.4.409","volume":"138","author":"L Yip","year":"2003","unstructured":"Yip L, Cote GJ, Shapiro SE, Ayers GD, Herzog CE, Sellin RV, et al. Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. Arch Surg. 2003;138(4):409\u201316.","journal-title":"Arch Surg"},{"issue":"Suppl 1","key":"778_CR96","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/cen.12515","volume":"81","author":"P Perros","year":"2014","unstructured":"Perros P, Boelaert K, Colley S, Evans C, Evans RM, Gerrard Ba G, et al. Guidelines for the management of thyroid cancer. Clin Endocrinol (Oxf). 2014;81(Suppl 1):1\u2013122.","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"6","key":"778_CR97","first-page":"1006","volume":"108","author":"CE Jackson","year":"1990","unstructured":"Jackson CE, Norum RA, Boyd SB, Talpos GB, Wilson SD, Taggart RT, et al. Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery. 1990;108(6):1006\u201312.","journal-title":"Surgery"},{"issue":"4","key":"778_CR98","first-page":"944","volume":"56","author":"J Szabo","year":"1995","unstructured":"Szabo J, Heath B, Hill VM, Jackson CE, Zarbo RJ, Mallette LE, et al. Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. Am J Hum Genet. 1995;56(4):944\u201350.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"778_CR99","first-page":"1449","volume":"85","author":"CJ Haven","year":"2000","unstructured":"Haven CJ, Wong FK, van Dam EW, van der Juijt R, van Asperen C, Jansen J, et al. A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab. 2000;85(4):1449\u201354.","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"778_CR100","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/ng1048","volume":"32","author":"JD Carpten","year":"2002","unstructured":"Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet. 2002;32(4):676\u201380.","journal-title":"Nat Genet"},{"issue":"45","key":"778_CR101","doi-asserted-by":"crossref","first-page":"17420","DOI":"10.1073\/pnas.0710725105","volume":"105","author":"L Lin","year":"2008","unstructured":"Lin L, Zhang JH, Panicker LM, Simonds WF. The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene. Proc Natl Acad Sci USA. 2008;105(45):17420\u20135.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"2","key":"778_CR102","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1002\/humu.1380030206","volume":"3","author":"ML Bisgaard","year":"1994","unstructured":"Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat. 1994;3(2):121\u20135.","journal-title":"Hum Mutat"},{"issue":"4","key":"778_CR103","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1210\/jc.2003-031016","volume":"89","author":"BM Cavaco","year":"2004","unstructured":"Cavaco BM, Guerra L, Bradley KJ, Carvalho D, Harding B, Oliveira A, et al. Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. J Clin Endocrinol Metab. 2004;89(4):1747\u201352.","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"778_CR104","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.1016\/S0016-5085(88)80074-X","volume":"95","author":"TR Foley","year":"1988","unstructured":"Foley TR, McGarrity TJ, Abt AB. Peutz\u2013Jeghers syndrome: a clinicopathologic survey of the \u201cHarrisburg family\u201d with a 49-year follow-up. Gastroenterology. 1988;95(6):1535\u201340.","journal-title":"Gastroenterology"},{"issue":"2","key":"778_CR105","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.ajhg.2008.07.011","volume":"83","author":"Y Ni","year":"2008","unstructured":"Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, et al. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet. 2008;83(2):261\u20138.","journal-title":"Am J Hum Genet"}],"container-title":["Head and Neck Pathology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12105-017-0778-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12105-017-0778-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12105-017-0778-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,9]],"date-time":"2017-08-09T12:40:43Z","timestamp":1502282443000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12105-017-0778-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,21]]},"references-count":105,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["778"],"URL":"https:\/\/doi.org\/10.1007\/s12105-017-0778-1","relation":{},"ISSN":["1936-055X","1936-0568"],"issn-type":[{"value":"1936-055X","type":"print"},{"value":"1936-0568","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,21]]}}}