{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T14:30:24Z","timestamp":1781101824480,"version":"3.54.1"},"reference-count":21,"publisher":"Japanese Society for Pediatric Endocrinology","issue":"1","funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clin Pediatr Endocrinol"],"published-print":{"date-parts":[[2025]]},"DOI":"10.1297\/cpe.2024-0024","type":"journal-article","created":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T18:11:03Z","timestamp":1726078263000},"page":"54-59","source":"Crossref","is-referenced-by-count":0,"title":["Solitary median maxillary central incisor syndrome caused by 22q11.2          microdeletion"],"prefix":"10.1297","volume":"34","author":[{"given":"Hirohito","family":"Shima","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine,              Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akinobu","family":"Miura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine,              Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayaka","family":"Kawashima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine,              Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikumi","family":"Umeki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine,              Sendai, Japan"},{"name":"Department of Pediatrics, Iwate Prefectural Central Hospital, Morioka,              Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chisumi","family":"Sogi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine,              Sendai, Japan"},{"name":"Department of Pediatrics, Japan Community Health Care Organization Sendai              Hospital, Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dai","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine,              Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuke","family":"Takezawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine,              Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryo","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine,              Sendai, Japan"},{"name":"Director, Uribo Kid\u2019s Clinic, Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natsuko","family":"Arai-Ichinoi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine,              Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miki","family":"Kamimura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine,              Sendai, Japan"},{"name":"Department of Pediatrics, National Hospital Organization Sendai Medical              Center, Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikuma","family":"Fujiwara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine,              Sendai, Japan"},{"name":"Department of Pediatrics, Sendai City Hospital, Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mika","family":"Adachi","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Tohoku University              Graduate School of Medicine, Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aya","family":"Yamada","sequence":"additional","affiliation":[{"name":"Division of Pediatric Dentistry, Tohoku University Graduate School of              Dentistry, Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Kawame","sequence":"additional","affiliation":[{"name":"Tohoku Medical Megabank Organization, Tohoku University Graduate School of              Medicine, Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuo","family":"Kikuchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine,              Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junko","family":"Kanno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Graduate School of Medicine,              Sendai, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"125","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Hall,              RK. Solitary            median maxillary central incisor (SMMCI) syndrome. Orphanet J            Rare Dis          2006;1: 12.","DOI":"10.1186\/1750-1172-1-12"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Nanni,              L, Ming,                JE, Du,                Y, Hall,                RK, Aldred,                M, Bankier,                A, et al.            SHH mutation is associated with solitary median maxillary central            incisor: a study of 13 patients and review of the literature. Am            J Med Genet          2001;102: 1\u201310.","DOI":"10.1002\/1096-8628(20010722)102:1<1::AID-AJMG1336>3.0.CO;2-U"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Dubourg,              C, Kim,                A, Watrin,                E, de                Tayrac, M,                Odent, S,                David, V,              et al. Recent advances in understanding            inheritance of holoprosencephaly. Am J Med Genet C Semin Med            Genet          2018;178: 258\u201369.","DOI":"10.1002\/ajmg.c.31619"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. McDonald-McGinn,                DM,                Sullivan,              KE, Marino,                B, Philip,                N, Swillen,                A,              Vorstman, JA,              et al. 22q11.2 deletion            syndrome. Nat Rev Dis Primers          2015;1: 15071.","DOI":"10.1038\/nrdp.2015.71"},{"key":"5","doi-asserted-by":"publisher","unstructured":"5. Blagojevic,                C, Heung,                T,                Theriault,              M,                Tomita-Mitchell,              A,                Chakraborty,              P, Kernohan,                K, et al.            Estimate of the contemporary live-birth prevalence of recurrent 22q11.2            deletions: a cross-sectional analysis from population-based newborn            screening. CMAJ Open          2021;9: E802\u20139.","DOI":"10.9778\/cmajo.20200294"},{"key":"6","unstructured":"6. McDonald-McGinn,                DM, Hain,                HS,              Emanuel, BS,              et al. 22q11.2 Deletion Syndrome. 1999 Sep 23          [Updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae          [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from:            https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1523\/."},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Burnside,                RD. 22q11.21            deletion syndromes: A review of proximal, central, and distal deletions and their            associated Features. Cytogenet Genome Res          2015;146: 89\u201399.","DOI":"10.1159\/000438708"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Rump,              P, de Leeuw,                N, van                Essen, AJ,                Verschuuren-Bemelmans,              CC,                Veenstra-Knol,              HE, Swinkels,                ME, et al.            Central 22q11.2 deletions. Am J Med Genet            A          2014;164A: 2707\u201323.","DOI":"10.1002\/ajmg.a.36711"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Hall,              RK, Bankier,                A, Aldred,                MJ, Kan,                K, Lucas,                JO, Perks,                AG. Solitary            median maxillary central incisor, short stature, choanal atresia\/midnasal stenosis            (SMMCI) syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol            Endod          1997;84: 651\u201362.","DOI":"10.1016\/S1079-2104(97)90368-1"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Oberoi,              S, Vargervik,                K.            Velocardiofacial syndrome with single central incisor.            Am J Med Genet A          2005;132A: 194\u20137.","DOI":"10.1002\/ajmg.a.30434"},{"key":"11","unstructured":"11. Yang,              HC, Shyur,                SD, Huang,                LH, Chang,                YC, Wen,                DC, Liang,                PH, et al.            DiGeorge syndrome associated with solitary median maxillary central            incisor. Asian Pac J Allergy Immunol          2005;23: 159\u201363."},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Firth,              HV, Richards,                SM, Bevan,                AP,              Clayton, S,                Corpas, M,                Rajan, D,              et al. DECIPHER: Database of Chromosomal            Imbalance and Phenotype in Humans Using Ensembl Resources. Am J            Hum Genet          2009;84: 524\u201333.","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Moon,              AM, Guris,                DL, Seo,                JH, Li,                L, Hammond,                J, Talbot,                A, et al.            Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11            deletion syndromes. Dev Cell          2006;10: 71\u201380.","DOI":"10.1016\/j.devcel.2005.12.003"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Simonis,              N, Migeotte,                I, Lambert,                N,                Perazzolo,              C, de Silva,                DC,                Dimitrov,            B, et al.            FGFR1 mutations cause Hartsfield syndrome, the unique association of            holoprosencephaly and ectrodactyly. J Med Genet          2013;50: 585\u201392.","DOI":"10.1136\/jmedgenet-2013-101603"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Chen,              Y, Wang,                Z, Lin,                C, Chen,                Y, Hu,                X, Zhang,                Y. Activated            epithelial FGF8 signaling induces fused supernumerary incisors.            J Dent Res          2022;101: 458\u201364.","DOI":"10.1177\/00220345211046590"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Fukami,              M, Iso,                M, Sato,                N,              Igarashi, M,                Seo, M,                Kazukawa,            I, et al.            Submicroscopic deletion involving the fibroblast growth factor receptor 1            gene in a patient with combined pituitary hormone deficiency.            Endocr J          2013;60: 1013\u201320.","DOI":"10.1507\/endocrj.EJ13-0023"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Wendl,              T, Adzic,                D,                Schoenebeck,              JJ, Scholpp,                S, Brand,                M, Yelon,                D, et al.            Early developmental specification of the thyroid gland depends on            han-expressing surrounding tissue and on FGF signals.            Development          2007;134: 2871\u20139.","DOI":"10.1242\/dev.02872"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Narumi,              S, Nagasaki,                K, Kiriya,                M, Uehara,                E, Akiba,                K,                Tanase-Nakao,              K, et al.            Functional variants in a TTTG microsatellite on 15q26.1 cause familial            nonautoimmune thyroid abnormalities. Nat Genet          2024;56: 869\u201376.","DOI":"10.1038\/s41588-024-01735-5"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Delvecchio,                M, Salerno,                M, Vigone,                MC,                Wasniewska,              M, Popolo,                PP,              Lapolla, R,              et al. Levothyroxine requirement in            congenital hypothyroidism: a 12-year longitudinal study.            Endocrine          2015;50: 674\u201380.","DOI":"10.1007\/s12020-015-0574-1"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Zhao,              Y, Diacou,                A,              Johnston, HR,                Musfee, FI,                McDonald-McGinn,              DM, McGinn,                D, et al.            International 22q11.2 Brain and Behavior Consortium.            Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2            deletion syndrome reveals modifiers of conotruncal heart defects.            Am J Hum Genet          2020;106: 26\u201340.","DOI":"10.1016\/j.ajhg.2019.11.010"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Cheung,              J, Estivill,                X, Khaja,                R,                MacDonald,              JR, Lau,                K, Tsui,                LC, et al.            Genome-wide detection of segmental duplications and potential assembly            errors in the human genome sequence. Genome Biol          2003;4: R25.","DOI":"10.1186\/gb-2003-4-4-r25"}],"container-title":["Clinical Pediatric Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/cpe\/34\/1\/34_2024-0024\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T23:26:25Z","timestamp":1736551585000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/cpe\/34\/1\/34_2024-0024\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.1297\/cpe.2024-0024","relation":{},"ISSN":["0918-5739","1347-7358"],"issn-type":[{"value":"0918-5739","type":"print"},{"value":"1347-7358","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]},"article-number":"2024-0024"}}