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Five cases have been reported. We report on a new patient with ACFS syndrome. In addition to the characteristic features of ACFS, the reported patient also has mild scoliosis, hemivertebrae and subclinical hyperthyroidism. These additional features may expand the phenotypic spectrum of the syndrome. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32737","type":"journal-article","created":{"date-parts":[[2009,7,17]],"date-time":"2009-07-17T16:23:06Z","timestamp":1247847786000},"page":"1749-1753","source":"Crossref","is-referenced-by-count":3,"title":["Expanding the phenotypic spectrum of acro\u2010cardio\u2010facial syndrome (ACFS): Exclusion of <i>P63<\/i> mutation"],"prefix":"10.1002","volume":"149A","author":[{"given":"Pranoot","family":"Tanpaiboon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rekwan","family":"Sittiwangkul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prapai","family":"Dejkhamron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Metawee","family":"Srikummool","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Warissara","family":"Sripathomsawat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piranit","family":"Kantaputra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,7,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.1.72"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009040-00007"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036442"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/19531"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30770"},{"key":"e_1_2_5_8_1","first-page":"787","article-title":"Ectrodactyly, cleft lip\/palate, ventricular septal defect, micropenis and mental retardation in a Brazilian child born to consanguineous parents","volume":"10","author":"Richieri\u2010Costa A","year":"1987","journal-title":"Rev Brasil Genet"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.3.3796"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/323123"}],"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.32737","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32737","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:23:26Z","timestamp":1697603006000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32737"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7,15]]},"references-count":9,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["10.1002\/ajmg.a.32737"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32737","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,7,15]]}}}