{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T23:55:31Z","timestamp":1775087731603,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2009,8,12]],"date-time":"2009-08-12T00:00:00Z","timestamp":1250035200000},"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":[[2009,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The International Research Symposium on ankyloblepharon\u2010ectodermal defects\u2010cleft lip\/palate (AEC) Syndrome, that was supported by the National Foundation for Ectodermal Dysplasias (NFED) through a grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Institutes of Health Office of Rare Diseases (NIH\u2010ORD), brought together physicians, scientists, and 23 individuals affected by AEC syndrome from 13 families. Eighteen of the AEC\u2010affected individuals were enrolled in an IRB\u2010approved protocol through Baylor College of Medicine. Enrolled participants had clinical evaluations by multiple subspecialists, and additionally submitted blood for mutational analysis and skin specimens for pathologic evaluation. One of the goals of the conference was to define clinical and pathologic findings for improved diagnostic criteria, with the hope of determining genotype\u2013phenotype correlations that might aid in predicting prognosis or directing therapeutics. What we found was wide interfamilial and intrafamilial variability in the manifestations of the syndrome. We were unable to identify any specific genotype\u2013phenotype correlations. This may relate to our small sample size or other unknown epigenetic factors that are also at play in the expression and manifestation of the syndrome in specific individuals. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32788","type":"journal-article","created":{"date-parts":[[2009,8,12]],"date-time":"2009-08-12T17:26:53Z","timestamp":1250098013000},"page":"1894-1899","source":"Crossref","is-referenced-by-count":8,"title":["Clinical lessons learned from the International Research Symposium on ankyloblepharon\u2010ectodermal defects\u2010cleft lip\/palate (AEC) syndrome"],"prefix":"10.1002","volume":"149A","author":[{"given":"Alanna F.","family":"Bree","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,8,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32760"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32836"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32826"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32790"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32761"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32797"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32794"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32835"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32789"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32793"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32791"}],"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.32788","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32788","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T05:23:24Z","timestamp":1694582604000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32788"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8,12]]},"references-count":11,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2009,9]]}},"alternative-id":["10.1002\/ajmg.a.32788"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32788","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,8,12]]}}}