{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:00:00Z","timestamp":1791327600099,"version":"4.3.1"},"reference-count":9,"publisher":"Wiley","issue":"23","license":[{"start":{"date-parts":[[2006,9,25]],"date-time":"2006-09-25T00:00:00Z","timestamp":1159142400000},"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":[[2006,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Here, we report six Brazilian patients with holoprosencephaly caused by <jats:italic>SIX3<\/jats:italic> mutations. Missense mutations were more common than frameshift mutations. Comparison of patients with missense versus frameshift mutations was essentially unremarkable. Our cases suggest that <jats:italic>SIX3<\/jats:italic> mutations result in a more severe phenotype than other gene mutations for holoprosencephaly. One patient had a double <jats:italic>SIX3<\/jats:italic> mutation, which has not been reported previously. In our <jats:italic>SIX3<\/jats:italic> mutations, three were transmitted by the paternal side, two were transmitted by the maternal side, and one was a <jats:italic>de novo<\/jats:italic> event. Mutations in normal parents with severe involvement of their offspring does not allow prediction of phenotypic severity, which makes genetic counseling difficult. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31377","type":"journal-article","created":{"date-parts":[[2006,9,25]],"date-time":"2006-09-25T22:56:06Z","timestamp":1159224966000},"page":"2577-2583","source":"Crossref","is-referenced-by-count":30,"title":["<i>SIX3<\/i> mutations with holoprosencephaly"],"prefix":"10.1002","volume":"140A","author":[{"given":"Lucilene Arilho","family":"Ribeiro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenia B.","family":"El\u2010Jaick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximilian","family":"Muenke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Richieri\u2010Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,9,25]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420400304"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20056"},{"key":"e_1_2_5_4_1","first-page":"247","article-title":"Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination","volume":"3","author":"Gripp KW","year":"2000","journal-title":"Nat Genet"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420160304"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.13.2479"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200540"},{"key":"e_1_2_5_8_1","first-page":"294","article-title":"Holoprosencephaly: Birth, data, genetic and demographic analyses of 30 families","volume":"11","author":"Roach E","year":"1975","journal-title":"Birth Defects"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.2.223"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/9718"}],"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.31377","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31377","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T08:55:27Z","timestamp":1694595327000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9,25]]},"references-count":9,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["10.1002\/ajmg.a.31377"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31377","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,9,25]]}}}