{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T12:49:57Z","timestamp":1792759797282,"version":"4.5.0"},"reference-count":9,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,5,3]],"date-time":"2016-05-03T00:00:00Z","timestamp":1462233600000},"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":[[2016,7]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Here we describe the second reported family with the CATSHL syndrome, a condition resulting from a unique mutation in the fibroblast growth factor receptor 3 (\n                      <jats:italic>FGFR3<\/jats:italic>\n                      ) gene. Our family confirms the consistent and unique phenotype of this condition, and the specificity of the mutation in\n                      <jats:italic>FGFR3<\/jats:italic>\n                      . The CATSHL syndrome appears to be an autosomal dominant disorder with full penetrance. \u00a9 2016 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37676","type":"journal-article","created":{"date-parts":[[2016,5,3]],"date-time":"2016-05-03T07:10:28Z","timestamp":1462259428000},"page":"1908-1911","source":"Crossref","is-referenced-by-count":17,"title":["A second family with CATSHL syndrome: Confirmatory report of another unique\n                    <i>FGFR3<\/i>\n                    syndrome"],"prefix":"10.1002","volume":"170","author":[{"given":"Luis F.","family":"Escobar","sequence":"first","affiliation":[{"name":"Medical Genetics and Neurodevelopmental Pediatrics Center Payton Manning Children's Hospital St. Vincent Hospital Indianapolis Indiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Tucker","sequence":"additional","affiliation":[{"name":"Medical Genetics and Neurodevelopmental Pediatrics Center Payton Manning Children's Hospital St. Vincent Hospital Indianapolis Indiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Bamshad","sequence":"additional","affiliation":[{"name":"Center for Clinical and Translational Research Department of Pediatrics University of Washington School of Medicine Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,5,3]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/12615"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2014.09.004"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1020914026829"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.4.1095"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M212710200"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn311"},{"key":"e_1_2_4_8_1","first-page":"555","article-title":"A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome","volume":"60","author":"Muenke M","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.20.9269"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/508433"}],"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.37676","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37676","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T19:19:20Z","timestamp":1696533560000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37676"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,3]]},"references-count":9,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1002\/ajmg.a.37676"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37676","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,3]]}}}