{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:12:21Z","timestamp":1791353541933,"version":"4.3.1"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,1,19]],"date-time":"2011-01-19T00:00:00Z","timestamp":1295395200000},"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":[[2012,1]]},"abstract":"<jats:p>Bertolacini CDP, Ribeiro\u2010Bicudo LA, Petrin A, Richieri\u2010Costa A, Murray JC. Clinical findings in patients with <jats:italic>GLI2<\/jats:italic> mutations \u2013 phenotypic variability.<\/jats:p><jats:p>Mutations in the human <jats:italic>GLI2<\/jats:italic> gene were first reported in association with defective anterior pituitary formation, panhypopituitarism, and forebrain anomalies represented by typical holoprosencephaly (HPE) and holoprosencephaly\u2010like (HPE\u2010L) phenotypes and postaxial polydactyly. Subsequently, anophthalmia plus orbital anomalies, heminasal aplasia, branchial arch anomalies and polydactyly have also been incorporated into the general phenotype. Here we described six Brazilian patients with phenotypic manifestations that range from isolated cleft lip\/palate with polydactyly, branchial arch anomalies to semi\u2010lobar holoprosencephaly. Novel sequence variants were found in the <jats:italic>GLI2<\/jats:italic> gene in patients with marked involvement of the temporomandibular joint (TMJ), a new clinical finding observed with mutations of this gene. Clinical, molecular and genetic aspects are discussed.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2010.01606.x","type":"journal-article","created":{"date-parts":[[2010,12,6]],"date-time":"2010-12-06T13:12:09Z","timestamp":1291641129000},"page":"70-75","source":"Crossref","is-referenced-by-count":56,"title":["Clinical findings in patients with <i>GLI2<\/i> mutations \u2013 phenotypic variability"],"prefix":"10.1111","volume":"81","author":[{"given":"CDP","family":"Bertolacini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LA","family":"Ribeiro\u2010Bicudo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Petrin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Richieri\u2010Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JC","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,1,19]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20295"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(00)00084-8"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI32032"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21094"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21016"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C109.011957"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0628-7"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0778-7"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi222"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2235734100"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31370"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.019125"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004410051268"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0908836106"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2003.10.021"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.8.1593"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00115"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.08.005"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2007.10.013"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.026583"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.2"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1597\/04-169R.1"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32813"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2010.01606.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2010.01606.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T16:15:14Z","timestamp":1698768914000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2010.01606.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1,19]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["10.1111\/j.1399-0004.2010.01606.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2010.01606.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,1,19]]}}}