{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:44:07Z","timestamp":1787503447416,"version":"build-2736575974"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,6,4]],"date-time":"2020-06-04T00:00:00Z","timestamp":1591228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,6,4]],"date-time":"2020-06-04T00:00:00Z","timestamp":1591228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Head and Neck Pathol"],"published-print":{"date-parts":[[2021,3]]},"DOI":"10.1007\/s12105-020-01185-5","type":"journal-article","created":{"date-parts":[[2020,6,4]],"date-time":"2020-06-04T05:02:52Z","timestamp":1591246972000},"page":"368-373","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Segmental Ipsilateral Odontognathic Dysplasia (Mandibular Involvement in Segmental Odontomaxillary Dysplasia?) and Identification of PIK3CA Somatic Variant in Lesional Mandibular Gingival Tissue"],"prefix":"10.1007","volume":"15","author":[{"given":"Tanya M.","family":"Gibson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith","family":"Rafferty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elyse","family":"Ryan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arupa","family":"Ganguly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2939-5862","authenticated-orcid":false,"given":"Ioannis G.","family":"Koutlas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,6,4]]},"reference":[{"key":"1185_CR1","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1016\/0030-4220(87)90150-2","volume":"64","author":"DA Miles","year":"1987","unstructured":"Miles DA, Lovas JL, Cohen MM. Hemimaxillofacial dysplasia: a newly recognized disorder of facial asymmetry, hypertrichosis of the facial skin, unilateral enlargement of the maxilla, and hypoplastic teeth in two patients. Oral Surg Oral Med Oral Pathol. 1987;64:445\u20138.","journal-title":"Oral Surg Oral Med Oral Pathol"},{"key":"1185_CR2","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/0030-4220(90)90183-S","volume":"70","author":"RA Danforth","year":"1990","unstructured":"Danforth RA, Melrose RJ, Abrams AM, Handlers JP. Segmental odontomaxillary dysplasia. Report of eight cases and comparison with hemimaxillofacial dysplasia. Oral Surg Oral Med Oral Pathol. 1990;70:81\u20135.","journal-title":"Oral Surg Oral Med Oral Pathol."},{"key":"1185_CR3","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1016\/j.adaj.2017.08.007","volume":"149","author":"MH Smith","year":"2018","unstructured":"Smith MH, Cohen DM, Katz J, Bhattacharyya I, Islam NM. Segmental odontomaxillary dysplasia: An underrecognized entity. J Am Dent Assoc. 2018;149:153\u201362.","journal-title":"J Am Dent Assoc"},{"key":"1185_CR4","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1111\/j.0736-8046.2004.21405.x","volume":"21","author":"MJ Welsch","year":"2004","unstructured":"Welsch MJ, Stein SL. A syndrome of hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings (HATS). Pediatr Dermatol. 2004;21:448\u201351.","journal-title":"Pediatr Dermatol"},{"key":"1185_CR5","first-page":"E18","volume":"94","author":"JM Alshaiji","year":"2014","unstructured":"Alshaiji JM, Handler MZ, Huo R, Freedman A, Schachner LA. HATS syndrome: hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings. Cutis. 2014;94:E18\u201321.","journal-title":"Cutis"},{"key":"1185_CR6","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1067\/moe.2000.108807","volume":"90","author":"N Prusack","year":"2000","unstructured":"Prusack N, Pringle G, Scotti V, Chen SY. Segmental odontomaxillary dysplasia: a case report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000;90:483\u20138.","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"1185_CR7","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1101\/gr.8.3.175","volume":"8","author":"B Ewing","year":"1998","unstructured":"Ewing B, Hillier L, Wendl MC, Green P. Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome Res. 1998;8:175\u201385.","journal-title":"Genome Res"},{"key":"1185_CR8","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1101\/gr.8.3.186","volume":"8","author":"B Ewing","year":"1998","unstructured":"Ewing B, Green P. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res. 1998;8:186\u201394.","journal-title":"Genome Res"},{"key":"1185_CR9","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1038\/nrg1879","volume":"7","author":"JA Engelman","year":"2006","unstructured":"Engelman JA, Luo J, Cantley LC. The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism. Nat Rev Genet. 2006;7:606\u201319.","journal-title":"Nat Rev Genet"},{"key":"1185_CR10","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1002\/ajmg.a.36552","volume":"164A","author":"KM Keppler-Noreuil","year":"2014","unstructured":"Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, et al. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A. 2014;164A:1713\u201333.","journal-title":"Am J Med Genet A"},{"key":"1185_CR11","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1002\/ajmg.c.31531","volume":"172","author":"KM Keppler-Noreuil","year":"2016","unstructured":"Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA. Somatic overgrowth disorders of the PI3K\/AKT\/mTOR pathway & therapeutic strategies. Am J Med Genet C. 2016;172:402\u201321.","journal-title":"Am J Med Genet C"},{"key":"1185_CR12","doi-asserted-by":"publisher","first-page":"856","DOI":"10.1016\/j.molmed.2018.08.003","volume":"24","author":"RR Madsen","year":"2018","unstructured":"Madsen RR, Vanhaesebroeck B, Semple RK. Cancer-associated PIK3CA mutations in overgrowth disorders. Trends Mol Med. 2018;24:856\u201370.","journal-title":"Trends Mol Med"},{"key":"1185_CR13","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1016\/S0190-9622(87)80249-9","volume":"16","author":"R Happle","year":"1987","unstructured":"Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol. 1987;16:899\u2013906.","journal-title":"J Am Acad Dermatol"},{"key":"1185_CR14","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.ydbio.2015.04.022","volume":"404","author":"LM Hare","year":"2015","unstructured":"Hare LM, Schwarz Q, Wiszniak S, Gurung R, Montgomery KG, Mitchell CA, et al. Heterozygous expression of the oncogenic Pik3ca(H1047R) mutation during murine development results in fatal embryonic and extraembryonic defects. Dev Biol. 2015;404:14\u201326.","journal-title":"Dev Biol"},{"issue":"9","key":"1185_CR15","doi-asserted-by":"publisher","first-page":"e87623","DOI":"10.1172\/jci.insight.87623","volume":"1","author":"G Mirzaa","year":"2016","unstructured":"Mirzaa G, Timms AE, Conti V, et al. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016;1(9):e87623.","journal-title":"JCI Insight"},{"key":"1185_CR16","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1038\/gim.2016.220","volume":"19","author":"P Kuentz","year":"2017","unstructured":"Kuentz P, St-Onge J, Duffourd Y, et al. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. Genet Med. 2017;19:989\u201397.","journal-title":"Genet Med"},{"key":"1185_CR17","unstructured":"https:\/\/preview.ncbi.nlm.nih.gov\/clinvar\/variation\/132954."},{"key":"1185_CR18","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1186\/1471-2407-13-602","volume":"13","author":"SI Chiosea","year":"2013","unstructured":"Chiosea SI, Grandis JR, Lui VW, Diergaarde B, Maxwell JH, Ferris RL, et al. PIK3CA, HRAS and PTEN in human papillomavirus positive oropharyngeal squamous cell carcinoma. BMC Cancer. 2013;13:602.","journal-title":"BMC Cancer"},{"key":"1185_CR19","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1186\/s13027-018-0216-3","volume":"13","author":"FF Munari","year":"2018","unstructured":"Munari FF, Cruvinel-Carloni A, Lacerda CF, de Oliveira ATT, Scapulatempo-Neto C, da Silva SRM, et al. PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome. Infect Agent Cancer. 2018;13:43.","journal-title":"Infect Agent Cancer"},{"key":"1185_CR20","first-page":"57","volume":"18","author":"F Elwy","year":"2017","unstructured":"Elwy F, Helwa R, El Leithy AA, Shehab El din Z, Assem MM, Hassan NH. PIK3CA mutations in HER2-positive breast cancer patients; frequency and clinicopathological perspective in Egyptian Patients. Asian Pac J Cancer Prev. 2017;18:57\u201364.","journal-title":"Asian Pac J Cancer Prev."},{"key":"1185_CR21","doi-asserted-by":"publisher","first-page":"3264","DOI":"10.3892\/ol.2016.5083","volume":"12","author":"S Chen","year":"2016","unstructured":"Chen S, Cavazza E, Barlier C, Salleron J, Filhine-Tresarrieu P, Gavoilles C, et al. Beside P53 and PTEN: Identification of molecular alterations of the RAS\/MAPK and PI3K\/AKT signaling pathways in high-grade serous ovarian carcinomas to determine potential novel therapeutic targets. Oncol Lett. 2016;12:3264\u201372.","journal-title":"Oncol Lett"},{"key":"1185_CR22","doi-asserted-by":"crossref","unstructured":"Koutlas I, Anbinder A, Alshagroud R. Hemiorofacial asymmetry (hyperplasia\/hypoplasia) with associated perineurial hyperplasia and perineuriomatous pseudo-onion bulb proliferations is a segmental orofacial variant of the PIK3CA-related overgrowth spectrum (PROS). Abstract #62; American Academy of Oral and Maxillofacial Pathology Annual Meeting, 2019, Miami FL.","DOI":"10.1016\/j.xhgg.2020.100009"},{"key":"1185_CR23","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1038\/pr.2017.155","volume":"82","author":"JA Couto","year":"2017","unstructured":"Couto JA, Konczyk DJ, Vivero MP, Kozakewich HPW, Upton J, Fu X, et al. Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis. Pediatr Res. 2017;82:850\u20134.","journal-title":"Pediatr Res"},{"key":"1185_CR24","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1097\/MCD.0000000000000099","volume":"25","author":"JH McDermott","year":"2016","unstructured":"McDermott JH, Byers H, Clayton-Smith J. Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome. Clin Dysmorphol. 2016;25:16\u20138.","journal-title":"Clin Dysmorphol"},{"key":"1185_CR25","first-page":"41","volume":"108","author":"R Tymen","year":"1981","unstructured":"Tymen R, Forestier JF, Boutet B. Colomb D [Late Becker's nevus. One hundred cases (author's transl)]. Ann Dermatol Venereol. 1981;108:41\u20136.","journal-title":"Ann Dermatol Venereol"},{"key":"1185_CR26","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1016\/j.jaad.2004.06.036","volume":"51","author":"R Danarti","year":"2004","unstructured":"Danarti R, K\u00f6nig A, Salhi A, Bittar M, Happle R. Becker's nevus syndrome revisited. J Am Acad Dermatol. 2004;51:965\u20139.","journal-title":"J Am Acad Dermatol"},{"key":"1185_CR27","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<357::AID-AJMG20>3.0.CO;2-R","volume":"68","author":"R Happle","year":"1997","unstructured":"Happle R, Koopman RJ. Becker nevus syndrome. Am J Med Genet. 1997;68:357\u201361.","journal-title":"Am J Med Genet"},{"key":"1185_CR28","doi-asserted-by":"publisher","first-page":"1795","DOI":"10.1016\/j.jid.2017.03.017","volume":"137","author":"ED Cai","year":"2017","unstructured":"Cai ED, Sun BK, Chiang A, Rogers A, Bernet L, Cheng B, et al. Postzygotic mutations in beta-actin are associated with Becker's nevus and Becker's nevus syndrome. J Invest Dermatol. 2017;137:1795\u20138.","journal-title":"J Invest Dermatol"},{"key":"1185_CR29","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1046\/j.1365-4362.2002.01439_1.x","volume":"41","author":"HJ Kim","year":"2002","unstructured":"Kim HJ, Kim KD, Lee MH. Becker's melanosis associated with fibrous dysplasia. Int J Dermatol. 2002;41:384\u20136.","journal-title":"Int J Dermatol"}],"container-title":["Head and Neck Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12105-020-01185-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12105-020-01185-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12105-020-01185-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,3]],"date-time":"2021-06-03T20:07:13Z","timestamp":1622750833000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12105-020-01185-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,4]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["1185"],"URL":"https:\/\/doi.org\/10.1007\/s12105-020-01185-5","relation":{},"ISSN":["1936-0568"],"issn-type":[{"value":"1936-0568","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,4]]},"assertion":[{"value":"24 November 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 May 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 June 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors do not have any conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This article does not contain any studies with human participants or animals performed by any of the authors. Mutation analysis was performed for diagnostic purposes.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Research Involving Human and Animal Rights"}}]}}