{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:40:48Z","timestamp":1790865648013,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,12,23]],"date-time":"2003-12-23T00:00:00Z","timestamp":1072137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly. It is usually considered as a minor manifestation of holoprosencephaly (HPE). Some reported families had severe cases of HPE in some members and SMMCI in others. Mutations of Sonic Hedgehog (<jats:italic>SHH<\/jats:italic>) have been documented in these families. SMMCI has also been found as an isolated finding or together with other anomalies such as microcephaly, short stature, endocrine pathology, and choanal atresia. We describe a patient with SMMCI and a novel SHH mutation: Val332Ala. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20685","type":"journal-article","created":{"date-parts":[[2004,4,15]],"date-time":"2004-04-15T22:04:28Z","timestamp":1082066668000},"page":"93-95","source":"Crossref","is-referenced-by-count":42,"title":["Solitary median maxillary central incisor syndrome: Clinical case with a novel mutation of sonic hedgehog"],"prefix":"10.1002","volume":"127A","author":[{"given":"Livia","family":"Garavelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Zanacca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Caselli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Banchini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Dubourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Odent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Gurrieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Neri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,12,23]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1111\/j.1399-0004.1987.tb02826.x","article-title":"Single maxillary central incisor and coloboma in hypomelanosis of Ito","volume":"2","author":"Bartholomew DW","year":"1987","journal-title":"Clin Genet"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)80485-0"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1546"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300411"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199811000-00001"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280226"},{"key":"e_1_2_3_8_1","first-page":"199","article-title":"Autosomal dominant inheritance of the MeMyer sequence","volume":"8","author":"Jaramillo C","year":"1988","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_3_9_1","first-page":"887","article-title":"Holoprosencephaly","volume":"128","author":"Lowry BR","year":"1974","journal-title":"Am J Dis Child"},{"key":"e_1_2_3_10_1","first-page":"6203","volume-title":"The metabolic and molecular bases of inherited disease","author":"Muenke M","year":"2000"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.17.8102"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.13.2479"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010722)102:1<1::AID-AJMG1336>3.0.CO;2-U"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.9.1683"},{"key":"e_1_2_3_15_1","unstructured":"OMIM.Online Mendelian Inheritance in Man\u2014http:\/\/www.ncbi.nlm.nih.gov\/htbin\u2010post\/Omim\/dispmim?147250."},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-4388(98)80004-4"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80022-X"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20685","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20685","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.20685","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20685","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,12]],"date-time":"2024-01-12T22:51:55Z","timestamp":1705099915000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20685"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,12,23]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,5,15]]}},"alternative-id":["10.1002\/ajmg.a.20685"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20685","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,12,23]]}}}