{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T12:17:16Z","timestamp":1777724236147,"version":"3.51.4"},"reference-count":11,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Medicine"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Autosomal dominant tricho-rhino-phalangeal syndrome I (TRPS I) is due to mutations in the TRPS1 gene. Tricho-rhino-phalangeal syndrome I is characterized by peculiar face and skeletal anomalies. Cone-shaped epiphyses are the characteristic radiographic findings.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To describe 2 families with TRPS I and 2 novel mutations in the TRPS1 gene.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>The study included 2 nonrelated families with TRPS I. All exons of the TRPS1 gene were analyzed from genomic DNA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The TRPS1 gene mutation analysis showed in family 1 the c.978C&gt;A nonsense mutation within exon 4 and in family 2 the c.164A&gt;C missense mutation within exon 3.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We found 2 families with TRPS1 caused by 2 novel mutations in the TRPS gene, particularly a missense mutation in exon 3, outside the GATA zinc finger domain, that leads a mild TRPS phenotype. Our data show a higher genotypic spectrum in the TRPS I and demonstrate that mutations in the amino terminus of the transcription factor result in TRPS I syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.2310\/jim.0b013e318250b74c","type":"journal-article","created":{"date-parts":[[2016,5,11]],"date-time":"2016-05-11T09:10:57Z","timestamp":1462957857000},"page":"823-826","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of Two Novel Mutations in TRPS1 Gene in Families with Tricho-Rhino-Phalangeal Type I Syndrome"],"prefix":"10.1177","volume":"60","author":[{"given":"Arturo","family":"Flores-Cuevas","sequence":"first","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oswaldo","family":"Mutchinick","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose J.","family":"Morales-Su\u00e1rez","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luz Maria","family":"Gonz\u00e1lez-Huerta","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio A.","family":"Cuevas-Covarrubias","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital General de M\u00e9xico, Facultad de Medicina, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,6,1]]},"reference":[{"key":"bibr1-JIM.0b013e318250b74c","doi-asserted-by":"publisher","DOI":"10.1086\/316926"},{"key":"bibr2-JIM.0b013e318250b74c","doi-asserted-by":"publisher","DOI":"10.1038\/71717"},{"key":"bibr3-JIM.0b013e318250b74c","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240420"},{"key":"bibr4-JIM.0b013e318250b74c","first-page":"1197","volume":"49","author":"L\u00fcdecke HJ","year":"1991","journal-title":"Am J Hum Genet"},{"key":"bibr5-JIM.0b013e318250b74c","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/20.7.1715"},{"key":"bibr6-JIM.0b013e318250b74c","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201094"},{"key":"bibr7-JIM.0b013e318250b74c","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1996.tb00920.x"},{"key":"bibr8-JIM.0b013e318250b74c","doi-asserted-by":"publisher","DOI":"10.1038\/ng1403"},{"key":"bibr9-JIM.0b013e318250b74c","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"bibr10-JIM.0b013e318250b74c","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn125"},{"key":"bibr11-JIM.0b013e318250b74c","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2007.08158.x"}],"container-title":["Journal of Investigative Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.2310\/JIM.0b013e318250b74c","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.2310\/JIM.0b013e318250b74c","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.2310\/JIM.0b013e318250b74c","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:39:25Z","timestamp":1777459165000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.2310\/JIM.0b013e318250b74c"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["10.2310\/JIM.0b013e318250b74c"],"URL":"https:\/\/doi.org\/10.2310\/jim.0b013e318250b74c","relation":{},"ISSN":["1081-5589","1708-8267"],"issn-type":[{"value":"1081-5589","type":"print"},{"value":"1708-8267","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6]]}}}