{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T13:07:25Z","timestamp":1784293645885,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,2,12]],"date-time":"2016-02-12T00:00:00Z","timestamp":1455235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 13\u2010year\u2010old Egyptian girl with generalized hypertrichosis, gingival hyperplasia, coarse facial appearance, no cardiovascular or skeletal anomalies, keloid formation, and multiple labial frenula was referred to our clinic for counseling. Molecular analysis of the <jats:italic><jats:styled-content style=\"fixed-case\">ABCC<\/jats:styled-content>9<\/jats:italic> gene showed a de novo missense mutation located in exon 27, which has been described previously with Cantu syndrome. An overlap between Cantu syndrome, acromegaloid facial syndrome, and hypertrichosis acromegaloid facial features disorder is apparent at the phenotypic and molecular levels. The patient reported here gives further evidence that these syndromes are an expression of the <jats:italic><jats:styled-content style=\"fixed-case\">ABCC<\/jats:styled-content>9<\/jats:italic>\u2010related disorders, ranging from hypertrichosis and acromegaloid facies to the severe end of Cantu syndrome.<\/jats:p>","DOI":"10.1111\/pde.12821","type":"journal-article","created":{"date-parts":[[2016,2,12]],"date-time":"2016-02-12T15:42:06Z","timestamp":1455291726000},"source":"Crossref","is-referenced-by-count":17,"title":["De Novo Mutation in <i><scp>ABCC<\/scp>9<\/i> Causes Hypertrichosis Acromegaloid Facial Features Disorder"],"prefix":"10.1111","volume":"33","author":[{"given":"Hanan H.","family":"Afifi","sequence":"first","affiliation":[{"name":"Clinical Genetics Department National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha M.","family":"Eid","sequence":"additional","affiliation":[{"name":"Human Cytogenetics Department National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inas S.","family":"Mostafa","sequence":"additional","affiliation":[{"name":"Orodental Genetics Department National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghada M.H.","family":"Abdel\u2010Salam","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,12]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.014"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2324"},{"key":"e_1_2_4_4_1","unstructured":"Online Mendelian Inheritance in Man. Cantu Syndrome. OMIM 2015. McKusick\u2010Nathans Institute for Genetic Medicine John Hopkins University (Baltimore MD) and National Center for Biotechnology Information National Library of Medicine (Bethesda MD) [online].http:\/\/www.ncbi.nlm.nih.gov\/omim\/. 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