{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T00:32:10Z","timestamp":1783384330366,"version":"3.54.6"},"reference-count":36,"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>Ankyloblepharon\u2013ectodermal dysplasia\u2013cleft lip\/palate (AEC) syndrome and Rapp\u2013Hodgkin syndrome are well\u2010characterized clinical entities caused by mutations in the <jats:italic>TP63<\/jats:italic> gene. While AEC and Rapp\u2013Hodgkin had been thought to be clinically distinct entities, the elucidation of their molecular etiology confirmed that they are a clinical continuum as opposed to distinct disorders. We have evaluated 17 patients with AEC syndrome using a systematic clinical approach. In our study, we have identified new features and others that were thought to occur only rarely. These include short stature and poor weight gain with preservation of head circumference in nearly all subjects, trismus in 35% and hypospadias in 78% of males. In addition, we describe the frequency of phenotypic features and demonstrate the extreme clinical variability in the largest cohort of AEC individuals reported in the literature thus far. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32791","type":"journal-article","created":{"date-parts":[[2009,8,12]],"date-time":"2009-08-12T17:27:06Z","timestamp":1250098026000},"page":"1916-1921","source":"Crossref","is-referenced-by-count":28,"title":["Craniofacial and anthropometric phenotype in ankyloblepharon\u2013ectodermal defects\u2013cleft lip\/palate syndrome (Hay\u2013Wells syndrome) in a cohort of 17 patients"],"prefix":"10.1002","volume":"149A","author":[{"given":"V. 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