{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:39:40Z","timestamp":1787071180968,"version":"build-2736575974"},"reference-count":7,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:p>Conradi-H\u00fcnermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones, and eyes. CDPX2 patients display skin defects, including ichthyotic lesions, follicular atrophoderma, cicatricial alopecia, and less frequently ichthyosiform erythroderma, cataracts, and skeletal abnormalities consisting of short stature, asymmetric shortening of the limbs, epiphyseal stippling, and craniofacial defects. CDPX2 results from mutations in emopamil binding protein (EBP) gene. The aim of our study is to identify EBP mutation in a unique case of Conradi-H\u00fcnermann-Happle syndrome with rare psoriasiform lesions.<\/jats:p>","DOI":"10.4103\/0019-5154.152570","type":"journal-article","created":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T19:02:24Z","timestamp":1758481344000},"page":"216-216","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Emopamil Binding Protein Mutation in Conradi-H\u00fcnermann-Happle Syndrome Representing Plaque-Type Psoriasis"],"prefix":"10.4103","volume":"60","author":[{"given":"Kemal","family":"Ozyurt","sequence":"first","affiliation":[{"name":"From the Department of Dermatology, Sutcu Imam University, School of Medicine, Kahramanmaras, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asli","family":"Subasioglu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Izmir Katip Celebi University, Ataturk Training and Research Hospital, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perihan","family":"Ozturk","sequence":"additional","affiliation":[{"name":"From the Department of Dermatology, Sutcu Imam University, School of Medicine, Kahramanmaras, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahime","family":"Inci","sequence":"additional","affiliation":[{"name":"From the Department of Dermatology, Sutcu Imam University, School of Medicine, Kahramanmaras, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuat","family":"Ozkan","sequence":"additional","affiliation":[{"name":"Department of Radiology, Sutcu Imam University, School of Medicine, Kahramanmaras, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Bueno","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Salamanca, Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Ca\u00f1ueto","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University Hospital of Salamanca, Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rogelio","family":"Gonz\u00e1lez Sarmiento","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Salamanca, Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20250921","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1111\/j.1346-8138.2012.01593.x","article-title":"Case of Conradi-H\u00fcnermann-Happle syndrome with alopecia: Histological examination of affected follicles","volume":"39","author":"Yajima","year":"2012","journal-title":"J Dermatol"},{"key":"R2-20250921","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1111\/j.1365-2133.2011.10756.x","article-title":"Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-H\u00fcnermann-Happle syndrome: New insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature","volume":"166","author":"Ca\u00f1ueto","year":"2012","journal-title":"Br J Dermatol"},{"key":"R3-20250921","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/BF00289453","article-title":"X-linked dominant chondrodysplasia punctata. 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