{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:00:34Z","timestamp":1791327634102,"version":"4.3.1"},"reference-count":6,"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>\n                  <jats:p>\n                    We report five Brazilian probands with\n                    <jats:italic>PATCHED<\/jats:italic>\n                    (\n                    <jats:italic>PTCH<\/jats:italic>\n                    ) mutations and highly variable phenotypes with holoprosencephaly in four cases and holoprosencephaly\u2010like facial features with a normal MRI in a fifth case. Three of our mutations were novel: Ala443Gly, Val751Gly, and Val908Gly. Two patients had the same mutation (Val908Gly), but were phenotypically different: alobar holoprosencephaly, absent nasal septum, and midline cleft lip\u2010palate in one case, and lobar holoprosencephaly, macrocephaly, hypertelorism, clefting of the nose, severe microphthalmia, and a single maxillary central incisor in the other. One of our patients had a Thr1052Met mutation, holoprosencephaly\u2010like facial features, and a normal MRI. Ming et al. [(2002); Hum Genet 110:297\u2013301] reported an identical mutation, but with alobar holoprosencephaly. \u00a9 2006 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.31369","type":"journal-article","created":{"date-parts":[[2006,9,25]],"date-time":"2006-09-25T18:56:11Z","timestamp":1159210571000},"page":"2584-2586","source":"Crossref","is-referenced-by-count":43,"title":["<i>PTCH<\/i>\n                    mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly\u2010like features and normal MRI"],"prefix":"10.1002","volume":"140A","author":[{"given":"Lucilene Arilho","family":"Ribeiro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey C.","family":"Murray","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_6_2_1","doi-asserted-by":"publisher","DOI":"10.1597\/04-169R.1"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0695-5"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/25.14.2745"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31370"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkf493"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.6.591"}],"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.31369","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31369","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T04:56:06Z","timestamp":1694580966000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31369"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9,25]]},"references-count":6,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["10.1002\/ajmg.a.31369"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31369","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]]}}}