{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:39:34Z","timestamp":1792805974608,"version":"4.5.0"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T00:00:00Z","timestamp":1511222400000},"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":[[2018,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>The \u201cblepharophimosis\u2010mental retardation\u201d syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral fissures and intellectual disability associate with a distinct set of other morphological features. Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic mutations of <jats:italic>UBE3B<\/jats:italic>. Affected individuals typically show microcephaly, impaired somatic growth, gastrointestinal and genitourinary problems, ectodermal anomalies and a characteristic face with short, upslanted palpebral fissures, depressed nasal bridge. and anteverted nares. Here we present four patients with five novel <jats:italic>UBE3B<\/jats:italic> mutations and propose the inclusion of clinical features to the characteristics of Kaufman oculocerebrofacial syndrome, including prominence of the cheeks and limb anomalies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38538","type":"journal-article","created":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T05:42:21Z","timestamp":1511242941000},"page":"187-193","source":"Crossref","is-referenced-by-count":17,"title":["Kaufman oculocerebrofacial syndrome: Novel <i>UBE3B<\/i> mutations and clinical features in four unrelated patients"],"prefix":"10.1002","volume":"176","author":[{"given":"R\u00fcstem","family":"Yilmaz","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University of Ulm Ulm Germany"},{"name":"International Graduate School in Molecular Medicine Ulm University of Ulm Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2659-7488","authenticated-orcid":false,"given":"Katalin","family":"Szakszon","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Institute of Pediatrics University of Debrecen Debrecen Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Altmann","sequence":"additional","affiliation":[{"name":"St. John Hospital Buda Children's Hospital Epilepsy Center Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umut","family":"Altunoglu","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Medical Faculty Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leyli","family":"Senturk","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Medical Faculty Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"McGuire","sequence":"additional","affiliation":[{"name":"Baylor Miraca Genetic Laboratories Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Calabrese","sequence":"additional","affiliation":[{"name":"Medical Genetic Service ASL di Imola Imola Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suneeta","family":"Madan\u2010Khetarpal","sequence":"additional","affiliation":[{"name":"University of Pittsburgh Medical Center Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Basel\u2010Vanagaite","sequence":"additional","affiliation":[{"name":"The Raphael Recanati Genetic Institute Rabin Medical Center Petach Tikva Israel"},{"name":"Pediatric Genetics Unit Schneider Children's Medical Center of Israel Petach Tikva Israel"},{"name":"Felsenstein Medical Research Center Rabin Medical Center Petach Tikva Israel"},{"name":"Sackler School of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2279-8052","authenticated-orcid":false,"given":"Guntram","family":"Borck","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Ulm Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.12.005"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.011"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1436-2"},{"key":"e_1_2_6_5_1","first-page":"21","article-title":"Kaufman oculocerebrofacial syndrome in a girl of 15 years","volume":"58","author":"Briscioli V.","year":"1995","journal-title":"The American Journal of Human Genetics"},{"key":"e_1_2_6_6_1","volume-title":"GeneReviews","author":"Campeau P. 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