{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T08:06:41Z","timestamp":1769242001172,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2011,10,11]],"date-time":"2011-10-11T00:00:00Z","timestamp":1318291200000},"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":[[2011,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Acro\u2010dermato\u2010ungual\u2010lacrimal\u2010tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by <jats:italic>TP63<\/jats:italic> mutations. Its clinical phenotype is similar to ectrodactyly\u2010ectodermal dysplasia\u2010cleft lip\/palate (EEC) and limb\u2010mammary syndrome (LMS), and differs from these disorders mainly by the absence of cleft lip and\/or palate. We report on a 39\u2010year\u2010old patient who was found to be heterozygous for a c.401G\u2009&gt;\u2009T (p.Gly134Val) de novo mutation of <jats:italic>TP63<\/jats:italic>. This patient had the ADULT phenotype associated with cleft palate. Our findings, rather than extend the clinical spectrum of ADULT syndrome, suggest that cleft palate can no longer be considered an element for differential diagnosis for ADULT, EEC, and LMS. Our data, added to other reports on overlapping phenotypes, support the combining of these three phenotypes into a unique entity that we propose to call \u201cELA syndrome,\u201d which is an acronym of ectrodactyly\u2010ectodermal dysplasia\u2010cleft lip and palate, limb\u2010mammary, and ADULT syndromes. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34270","type":"journal-article","created":{"date-parts":[[2011,10,11]],"date-time":"2011-10-11T20:51:16Z","timestamp":1318366276000},"page":"2746-2749","source":"Crossref","is-referenced-by-count":24,"title":["Cleft palate and ADULT phenotype in a patient with a novel <i>TP63<\/i> mutation suggests lumping of EEC\/LM\/ADULT syndromes into a unique entity: ELA 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